SCIENTIFIC BACKGROUND

ACTA1, MYH7, RYR1, TPM3

Category:

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 clarification must be made. 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, MYH7, RYR1, TPM3

ASSOCIATED TESTS

How to order