Myopathy, Myosin Storage, Autosomal Recessive; Msmb
Genes related to Myopathy, Myosin Storage, Autosomal Recessive; Msmb
- MYH7
Clinical Features
Top most frequent phenotypes and symptoms related to Myopathy, Myosin Storage, Autosomal Recessive; Msmb
- Short stature
- Scoliosis
- Muscle weakness
- High palate
- Skeletal muscle atrophy
- Respiratory insufficiency
- Cardiomyopathy
- Myopathy
- Congestive heart failure
- Elevated serum creatine phosphokinase
And another 17 symptoms. If you need more information about this disease we can help you.
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
Myopathy, Myosin Storage, Autosomal Recessive; Msmb Is also known as myopathy, hyaline body, autosomal recessive.
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.Myopathy, Myosin Storage, Autosomal Recessive; Msmb Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Athena Diagnostics Inc (United States).
TIA1, MYOT, TTN, VCP, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FLNC, MATR3, MYH7, NEB
Specificity
6 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
![]() 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
Specificity
1 %
Genes
100 % |
![]() 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
Specificity
1 %
Genes
100 % |
![]() 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
Specificity
2 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, MYOZ2, ACTC1, ACTN2, CSRP3, NEXN, DSG2, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
![]() By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).
MYH7
Specificity
100 %
Genes
100 % |
![]() By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).
TNNC1, TNNI3, TNNT2, TPM1, TTR, MYOZ2, ACTC1, CAV3, ACTN2, CSRP3, NEXN, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2
Specificity
6 %
Genes
100 % |
You can get up to 263 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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