title: Pathological defects in congenital myopathies.
abstract: Congenital myopathies are a molecularly, pathologically and clinically heterogenous group of disorders defined by hypotonia and muscle weakness, that usually present at birth or early childhood, in association with a characteristic morphological defect. The most common morphological defects are nemaline rods, cores of varying size, central nuclei, and type I fibre hypotrophy, with or without an additional abnormality. The defective genes responsible for many of the congenital myopathies are known, but there is considerable clinico-pathological overlap. In particular, defects in more than one gene are associated with the presence of the same pathological feature, while defects in the same gene can result in more than one pathological feature. Understanding the complexities of these spectra is paramount to the elucidation of pathogenesis, and to the development of therapies.
authors.affiliation: Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, WC1N 1EH, UK. c.sewry@imperial.ac.uk
authors.forename: Caroline A
authors.initials: CA
authors.lastname: Sewry
mesh_terms: D000818:Animals; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology* / Q000502:physiology; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*