title: Hereditary inclusion body myopathies.
abstract: Hereditary inclusion body myopathies comprise autosomal recessive and autosomal dominant muscle disorders that have a variable clinical phenotype but share similar morphological features. These include rimmed vacuoles within muscle fibres and collections of intrasarcoplasmic and intranuclear tubulofilamentous inclusions, 16-18 nm in external diameter. The resemblances and the differences between the sporadic and the hereditary inclusion body myopathies are discussed. Recent advances in the identification of various proteins involved in these diseases are mentioned because they have provided better insight into their underlying pathophysiological mechanisms. Linkage studies have allowed the localization of the genetic defect of some hereditary inclusion body myopathies and related disorders, contributing to their individualization.
authors.affiliation: INSERM Unit. 153, Hôpital de la Salpêtrière, Paris, France.
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
mesh_terms: D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D009135:Muscular Diseases / Q000235:genetics*; D018979:Myositis, Inclusion Body / Q000235:genetics*