IVM：先天性肌病：令人费解（英文版）

Congenital myopathies (CMs) conform a large group of heterogeneous NMD with an ever-growing genotypic-phenotypic spectrum. CMs are caused by variants in at least 27 genes that code mostly for muscle proteins. The prevalence of CMs is 1.5 per 100,000, while the prevalence in the child population is higher. CMs are characterized at a clinical level by neonatal onset with severe hypotonia, muscle weakness and developmental delay. However, recent advances in diagnostic techniques have expanded th