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 posteri or leg and thigh muscles, and normal or slightly-elevated creatine kin ase levels was identified in three members of a French kindred. Tibial is anterior muscles were involved only in the most severely-affected s ibling. Histological features included large multiple nonrimmed vacuol ation and focal intrasarcoplasmic masses which immunoreacted with the anti-desmin antibody. Cytoplasmic and intranuclear tubulofilamentous i nclusions were observed by electron microscopy. The condition of this familial syndrome is discussed in relation to previously-identified au tosomal dominant distal myopathies and inclusion body myopathies. (C) 1998 Elsevier Science B.V. All rights reserved.