Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.

ABSTRACT:

Background

Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.

Methods

Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes. Whole exome sequencing was used to screen for prospective variants responsible for muscular diseases, followed by co-segregation analysis in the families and prenatal diagnosis via Sanger sequencing, if appropriat

SUBMITTER: Mao B 

PROVIDER: S-EPMC11734487 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature