SCIENTIFIC BACKGROUND

ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, GNE, KBTBD13, KLHL40, KLHL41, LMOD3, MEGF10, MTM1, MTMR14, MYF6, MYH2, MYH7, MYL1, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, SPTBN4, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN, VCP

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Scientific Background

Congenital myopathies are a group of rare, clinically heterogeneous diseases characterized by structural abnormalities in muscle histology under electron microscopy. The most common congenital structural myopathies are nemaline myopathy, central core disease and centronuclear myopathy. Due to the numerous differential diagnoses, a broad diagnostic work-up is necessary. Genetic panel diagnostics can contribute to the definitive diagnosis.

 

References

Ravenscroft et al. 2018, F1000Research, 7(F1000 Faculty Rev):1921 / Witting et al. 2017, Neurol Genet 3:e140 / North et al. 2014, Neuromuscular Disorders 24:97 / Nigro et al. 2012, Acta Myologica XXXI:196

GENES
ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, GNE, KBTBD13, KLHL40, KLHL41, LMOD3, MEGF10, MTM1, MTMR14, MYF6, MYH2, MYH7, MYL1, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, SPTBN4, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN, VCP
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