The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis

Hereditary neuromuscular diseases (NMDs) are a group of rare disorders, and the diagnosis of these diseases is a substantial burden for referral centers. Although next-generation sequencing (NGS) has identified a large number of genes associated with hereditary NMDs, the diagnostic rates still vary across centers.

Subjects

Myopathy; Neuromuscular diseases; Neuropathy; Next-generation sequencing