Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2g

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.

Genes related to Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2g

TCAP

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Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2g

Skeletal muscle atrophy
Myopathy
Elevated serum creatine phosphokinase
Difficulty walking
Muscular dystrophy
Distal amyotrophy
Foot dorsiflexor weakness
Limb-girdle muscular dystrophy
Increased variability in muscle fiber diameter
Calf muscle hypertrophy

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2g Is also known as lgmd2g, limb-girdle muscular dystrophy due to telethonin deficiency, muscular dystrophy, limb-girdle, type 2g.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2g Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Limb Girdle Muscular Dystrophy Advanced Evaluation. By Athena Diagnostics Inc (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, TRIM32, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, DYSF, FKTN , (...) View the complete list with 3 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, TRIM32, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, DYSF, FKTN, LMNA, PLEC, POMT1 Specificity 5 % Genes 100 %
Muscular Dystrophy Advanced Evaluation. By Athena Diagnostics Inc (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...) View the complete list with 13 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, TMEM43, SMCHD1, DMD, DYSF, EMD, FKTN, FHL1, ISPD, LMNA, PLEC, POMT1, CAVIN1 Specificity 4 % Genes 100 %
Congenital Muscular Dystrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). TCAP, RXYLT1, B4GAT1, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, POMGNT2, B3GALNT2, DNM2, DPM2, FKTN, FHL1, ISPD, ITGA7, LAMA2 , (...) View the complete list with 3 more genes Panel complete gene list TCAP, RXYLT1, B4GAT1, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, POMGNT2, B3GALNT2, DNM2, DPM2, FKTN, FHL1, ISPD, ITGA7, LAMA2, LARGE1, LMNA, POMT1 Specificity 5 % Genes 100 %
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...) View the complete list with 86 more genes Panel complete gene list RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, CACNA1C, CACNA2D1, PRDM16, CACNB2, JPH2, ACTC1, CALM1, CALM2, CASQ2, CAV3, CBL, SHOC2, LDB3, ANKRD1, MYLK2, ACTN2, SLMAP, HCN4, NEBL, RANGRF, TRPM4, FKRP, MTO1, SCN3B, MYPN, DOLK, CRYAB, CSRP3, NKX2-5, TMEM70, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, AGL, EMD, FKTN, FHL1, AKAP9, GAA, ALMS1, GLA, ANK2, HRAS, ABCC9, ILK, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LMNA, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, NRAS, PKP2, PLN, ACADVL, PRKAG2, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...) View the complete list with 31 more genes Panel complete gene list RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL, MYPN, DOLK, CRYAB, CSRP3, RBM20, DES, TMEM43, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, GLA, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %
Dilated cardiomyopathy - full panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2 , (...) View the complete list with 5 more genes Panel complete gene list SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2, LMNA, MYBPC3, MYH6, MYH7, PLN Specificity 4 % Genes 100 %
Dilated cardiomyopathy - familial variant analysis. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2 , (...) View the complete list with 5 more genes Panel complete gene list SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2, LMNA, MYBPC3, MYH6, MYH7, PLN Specificity 4 % Genes 100 %

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Sources and references

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