MYOT gene related symptoms and diseases
All the information presented here about the MYOT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MYOT gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dysphagia | Very Common - Between 80% and 100% cases |
| Elevated serum creatine phosphokinase | Very Common - Between 80% and 100% cases |
| Proximal muscle weakness | Very Common - Between 80% and 100% cases |
| Distal muscle weakness | Very Common - Between 80% and 100% cases |
| Muscle weakness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with MYOT gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Centrally nucleated skeletal muscle fibers
- Muscular dystrophy
- Respiratory insufficiency
- Myofibrillar myopathy
- Absent Achilles reflex
- Autophagic vacuoles
- Myopathy
Not very common - Between 30% and 50% cases
- Increased endomysial connective tissue
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MYOT gene
Here you will find a list of rare diseases related to the MYOT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPHEROID BODY MYOPATHY
Description
Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.
Most common symptoms of SPHEROID BODY MYOPATHY
- Muscle weakness
- Tremor
- Dysphagia
- Myopathy
- Abnormality of metabolism/homeostasis
More info about SPHEROID BODY MYOPATHY
DISTAL MYOTILINOPATHY
Alternate names
DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly, lgmd1, formerly, lgmd1a, formerly, myopathy, myofibrillar, myotilin-related, muscular dystrophy, limb-girdle, type 1a, formerly, myotilinopathy
Description
Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
Most common symptoms of DISTAL MYOTILINOPATHY
- Muscle weakness
- Flexion contracture
- Peripheral neuropathy
- Dysarthria
- Dysphagia
More info about DISTAL MYOTILINOPATHY
AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A
Alternate names
AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A Is also known as limb-girdle muscular dystrophy due to myotilin deficiency, lgmd1a
Description
Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
Most common symptoms of AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A
- Dysphagia
- Respiratory insufficiency
- Elevated serum creatine phosphokinase
- Respiratory failure
- Proximal muscle weakness
More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A
Search interest in MYOT
Potential gene panels for MYOT gene
Distal Myopathy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Distal Myopathy Advanced Sequencing Evaluation that also includes the following genes: TIA1 MYOT TTN VCP CAV3 LDB3 KLHL9 GNE CRYAB ANO5
More info about this panel United States.
Myofibrillar Myopathy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Myofibrillar Myopathy Advanced Sequencing Evaluation that also includes the following genes: MYOT TTN LDB3 SELENON CRYAB DES FHL1 FLNC BAG3
More info about this panel United States.
Limb Girdle Muscular Dystrophy Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Limb Girdle Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Muscular Dystrophy Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel United States.
Comprehensive Neuromuscular Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Limb-Girdle Muscular Dystrophy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3
More info about this panel United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel United States.
Limb-Girdle Muscular Dystrophy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Myotilinopathy Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the MYOT gene.
More info about this panel Switzerland.
Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG
More info about this panel United States.
MYOT. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MYOT gene.
More info about this panel Spain.
TTID. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MYOT gene.
More info about this panel Spain.
MYOT. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MYOT gene.
More info about this panel Spain.
Limb-girdle muscular dystrophies (NGS panel for 26 genes) Panel
Portugal.
By CGC Genetics Limb-girdle muscular dystrophies (NGS panel for 26 genes) that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Portugal.
Limb-girdle muscular dystrophy type 1A (LGMD1A, sequence analysis of MYOT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYOT gene.
More info about this panel Portugal.
Myotilinopathy (sequence analysis of MYOT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYOT gene.
More info about this panel Portugal.
Limb-girdle muscular dystrophy type 1A (LGMD1A, deletion/duplication analysis of MYOT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYOT gene.
More info about this panel Portugal.
Limb-girdle muscular dystrophy type 1A (LGMD1A, deletion/duplication analysis of MYOT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYOT gene.
More info about this panel Portugal.
Distal Hereditary Myopathy Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Distal Hereditary Myopathy Sequencing Panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 KLHL9
More info about this panel United States.
Myotilinopathy via MYOT Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MYOT gene.
More info about this panel United States.
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 DNAJB6
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
Distal Myopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Distal Myopathy NGS panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE
More info about this panel United States.
Distal Myopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Distal Myopathy Comprehensive panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE
More info about this panel United States.
Distal Myopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Distal Myopathy Deletion / Duplication panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE
More info about this panel United States.
Myofibrillar myopathy and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders NGS panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC
More info about this panel United States.
Limb girdle muscular dystrophy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Comprehensive panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Myofibrillar myopathy and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Comprehensive panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC
More info about this panel United States.
Limb girdle muscular dystrophy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Deletion / Duplication panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Limb girdle muscular dystrophy NGS panel Panel
United States.
By Connective Tissue Gene Tests Limb girdle muscular dystrophy NGS panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Myofibrillar myopathy and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Deletion / Duplication panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC
More info about this panel United States.
Histological Myofibrillar Myopathy Panel
Germany.
By MGZ Medical Genetics Center Histological Myofibrillar Myopathy that also includes the following genes: MYOT TTN VCP LDB3 GNE CRYAB DES FHL1 FLNC LMNA
More info about this panel Germany.
Muscular Dystrophy: Limb Girdle - autosomal dominant Panel
Germany.
By MGZ Medical Genetics Center Muscular Dystrophy: Limb Girdle - autosomal dominant that also includes the following genes: MYOT DNAJB6 CAV3 DES LMNA
More info about this panel Germany.
Heart Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panel Germany.
Muscle Disease with Distal Myopathy Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Distal Myopathy that also includes the following genes: TCAP TIA1 MYOT TTN VCP CCDC78 CAPN3 CAV3 LDB3 BICD2
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel Germany.
MYOT Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the MYOT gene.
More info about this panel Germany.
Myotilinopathy Testing Panel
United States.
By FirmaLab
This panel specifically test the MYOT gene.
More info about this panel United States.
Distal Myopathy Panel Panel
United States.
By FirmaLab Distal Myopathy Panel that also includes the following genes: MYOT TTN CAV3 LDB3 GNE ANO5 DNM2 DYSF MATR3 MYH7
More info about this panel United States.
Myofibrillar Panel Panel
United States.
By FirmaLab Myofibrillar Panel that also includes the following genes: MYOT LDB3 CRYAB DES FLNC BAG3
More info about this panel United States.
Cardiomyopathy panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiomyopathy panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1
More info about this panel Netherlands.
Myofibrillar myopathy panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Myofibrillar myopathy panel that also includes the following genes: MYOT LDB3 CRYAB DES FHL1 FLNC BAG3
More info about this panel Netherlands.
Myofibrillar myopathy panel Panel
Germany.
By Centogene AG - the Rare Disease Company Myofibrillar myopathy panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3
More info about this panel Germany.
Mucopolysaccharidosis panel Panel
Germany.
By Centogene AG - the Rare Disease Company Mucopolysaccharidosis panel that also includes the following genes: SGSH MYOT LDB3 HGSNAT GALNS GNS GUSB HYAL1 IDS IDUA
More info about this panel Germany.
Myotilinopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MYOT gene.
More info about this panel Germany.
Spheroid body myopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MYOT gene.
More info about this panel Germany.
Limb-girdle muscular dystrophy panel Panel
Germany.
By Centogene AG - the Rare Disease Company Limb-girdle muscular dystrophy panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Limb-girdle muscular dystrophy, autosomal dominant type 1A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MYOT gene.
More info about this panel Germany.
Congenital and Distal Myopathies Panel Panel
Germany.
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel Germany.
Limb-Girdle Muscular Dystrophies Panel Panel
Germany.
By CeGaT GmbH Limb-Girdle Muscular Dystrophies Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Germany.
Limb-Girdle Muscular Dystrophy type 1 Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Limb-Girdle Muscular Dystrophy type 1 that also includes the following genes: MYOT DNAJB6 CAV3 TNPO3 DES HNRNPDL LMNA
More info about this panel Poland.
Limb girdle muscular dystrophy 1A Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the MYOT gene.
More info about this panel Germany.
Limb girdle muscular dystrophy-Panel Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner Limb girdle muscular dystrophy-Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT CAPN3 DNAJB6 CAV3 TRIM32
More info about this panel Germany.
Congenital Myopathy and Distal Myopathy NGS panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1
More info about this panel Estonia.
Limb-Girdle Muscular Dystrophy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Estonia.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Dilated Cardiomyopathy Panel Panel
Spain.
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP
More info about this panel Spain.
Skeletal Myopathy Panel Panel
Spain.
By Health in Code Skeletal Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SLC22A5 SLC25A4 SURF1 TAZ TCAP TNNI3 MYOT
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Skeletal myopathy Panel Panel
Spain.
By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
Muscular dystrophy, limb-girdle 1A Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the MYOT gene.
More info about this panel Austria.
Myotilinopathy Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the MYOT gene.
More info about this panel Austria.
Myopathy, spheroid body Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the MYOT gene.
More info about this panel Austria.
Muscular dystrophy, limb-girdle 1A Panel
Slovakia.
By MedGene
This panel specifically test the MYOT gene.
More info about this panel Slovakia.
Myopathy, spheroid body Panel
Slovakia.
By MedGene
This panel specifically test the MYOT gene.
More info about this panel Slovakia.
Myotilinopathy Panel
Slovakia.
By MedGene
This panel specifically test the MYOT gene.
More info about this panel Slovakia.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel United States.
Invitae Myofibrillar Myopathy Panel Panel
United States.
By Invitae Invitae Myofibrillar Myopathy Panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3
More info about this panel United States.
Invitae Comprehensive Muscular Dystrophy Panel Panel
United States.
By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6
More info about this panel United States.
Invitae Distal Myopathy Panel Panel
United States.
By Invitae Invitae Distal Myopathy Panel that also includes the following genes: SQSTM1 TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE CRYAB
More info about this panel United States.
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
United States.
By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panel United States.
Invitae Comprehensive Myopathy Panel Panel
United States.
By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT
More info about this panel United States.
Invitae Limb-Girdle Muscular Dystrophy Panel Panel
United States.
By Invitae Invitae Limb-Girdle Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Limb-girdle muscular dystrophy type 1A (LGMD 1A): TTID(MYOT) gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MYOT gene.
More info about this panel Spain.
LIMB-GIRDLE MUSCULAR DYSTROPHY Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LIMB-GIRDLE MUSCULAR DYSTROPHY that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Spain.
LIMB-GIRDLE MUSCULAR DYSTROPHY, A.D. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LIMB-GIRDLE MUSCULAR DYSTROPHY, A.D. that also includes the following genes: MYOT DNAJB6 CAV3 DES LMNA
More info about this panel Spain.
Myofibrillar myopathy Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Myofibrillar myopathy that also includes the following genes: TPM3 MYOT TTN DNAJB6 LDB3 TRIM32 CRYAB DES FHL1 FLNC
More info about this panel Spain.
Limb-Girdle Muscular Dystrophy Type 1A: TTID Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the MYOT gene.
More info about this panel United States.
Limb-Girdle Muscular Dystrophy Type 1A: TTID Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the MYOT gene.
More info about this panel United States.
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3
More info about this panel United States.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Muscular Dystrophies NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Muscular Dystrophies NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN MMEL1 CAPN3 DNAJB6
More info about this panel United States.
Mucopolysaccharidosis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Mucopolysaccharidosis NGS Panel that also includes the following genes: SGSH MYOT LDB3 HGSNAT GALNS GNS GUSB IDS IDUA ARSB
More info about this panel United States.
Neuromuscular NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel United States.
Limb-Girdle Muscular Dystrophy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Limb-Girdle Muscular Dystrophy NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
Myofibrillar Myopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Myofibrillar Myopathy NGS Panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3
More info about this panel United States.
MYOT Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYOT gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panel Finland.
LGMD and Congenital Muscular Dystrophy Panel Panel
Finland.
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Finland.
Comprehensive Muscular Dystrophy / Myopathy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panel Finland.
Charcot-Marie-Tooth Neuropathy Panel Panel
Finland.
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Myotilin-related myofibrillar myopathy without spheroid body Panel
Spain.
By Bioarray
This panel specifically test the MYOT gene.
More info about this panel Spain.
Autosomal dominant limb-girdle muscular dystrophy type 1A Panel
Spain.
By Bioarray
This panel specifically test the MYOT gene.
More info about this panel Spain.
MYOFIBRILLAR MYOPATHY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYOFIBRILLAR MYOPATHY NGS PANEL that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3
More info about this panel Spain.
MUSCULAR DYSTROPHY, LIMB-GIRDLE TYPE 1A (AUT. DOMINANT) (MYOTILIN DEFICIENCY) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the MYOT gene.
More info about this panel Spain.
MYOFIBRILLAR MYOPATHY Panel
Spain.
By Laboratorio de Genetica Clinica SL MYOFIBRILLAR MYOPATHY that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3
More info about this panel Spain.
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL that also includes the following genes: SGCA SGCB SGCD SGCG BVES TCAP MYOT TTN CAPN3 DNAJB6
More info about this panel Spain.
Limb-girdle muscular dystrophy panel Panel
Canada.
By LifeLabs Genetics Limb-girdle muscular dystrophy panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Canada.
Limb-Girdle Muscular Dystrophy Type 1A, Sequencing MYOT Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MYOT gene.
More info about this panel Spain.
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 3 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 3 Genes that also includes the following genes: MYOT CAV3 LMNA
More info about this panel Spain.
Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes Panel
Spain.
By Reference Laboratory Genetics Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Spain.
Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes Panel
Spain.
By Reference Laboratory Genetics Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
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