Autosomal dominant late adult onset distal leg myopathy.
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.
Pénisson-Besnier
I
I
Service de Neurologie A, Hôpital Larrey, CHRU, Angers, France.
Dumez
C
C
Chateau
D
D
Dubas
F
F
Fardeau
M
M
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