title: What's new in neuromuscular disorders? The congenital myopathies.
abstract: The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle biopsy, comprising central core disease, minicore myopathy (multi-minicore disease), nemaline myopathy and myotubular myopathy. Recent years have seen genetic resolution of a proportion of these conditions. The following review summarizes recent genetic findings in the congenital myopathies and outlines implications for our understanding of their pathophysiological basis and their relation to other neuromuscular disorders.
authors.affiliation: Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College Faculty of Medicine, London, UK.
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
authors.forename: Caroline A
authors.initials: CA
authors.lastname: Sewry
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D017696:Myopathies, Nemaline / Q000175:diagnosis / Q000235:genetics; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics*; D020512:Myopathy, Central Core / Q000175:diagnosis / Q000235:genetics