Analysis of copy number variants in neuromuscular disorders: a large cohort study
Inherited myopathies are muscular conditions usually classified within the large family of neuromuscular disorders (NMDs). They comprise many different forms, among which muscular dystrophies and congenital myopathies may show overlapping clinical presentation, yet huge genetic heterogeneity.
Next generation sequencing (NGS) technologies have led to an increase in the diagnosis of these disorders with a reported detection rate of single nucleotide variants or small ins/dels between 40% and 60%. However, the mutations remain unidentified in over 50% of patients affected by nonspecific skeletal muscle disorders.
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