title: Autosomal dominant late adult onset distal leg myopathy.
abstract: A distal myopathy characterised by an autosomal dominant inheritance, with clinical onset around the age of 60, early involvement of posterior leg and thigh muscles, and normal or slightly-elevated creatine kinase levels was identified in three members of a French kindred. Tibialis anterior muscles were involved only in the most severely-affected sibling. Histological features included large multiple nonrimmed vacuolation and focal intrasarcoplasmic masses which immunoreacted with the anti-desmin antibody. Cytoplasmic and intranuclear tubulofilamentous inclusions were observed by electron microscopy. The condition of this familial syndrome is discussed in relation to previously-identified autosomal dominant distal myopathies and inclusion body myopathies.
authors.affiliation: Service de Neurologie A, Hôpital Larrey, CHRU, Angers, France.
authors.forename: I
authors.initials: I
authors.lastname: Pénisson-Besnier
authors.forename: C
authors.initials: C
authors.lastname: Dumez
authors.forename: D
authors.initials: D
authors.lastname: Chateau
authors.forename: F
authors.initials: F
authors.lastname: Dubas
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
mesh_terms: D017668:Age of Onset; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007866:Leg; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree