Familial inclusion body myositis: evidence for autosomal dominant inheritance.
We report a kindred manifesting clinical features and muscle biopsy findings of inclusion body myositis (IBM). In this family, multiple members were affected in two generations with direct male-to-male and female-to-male transmission. This is the first reported instance of autosomal dominant inheritance in IBM, which usually occurs sporadically or, rarely, may be transmitted as an autosomal recessive disorder.
Neville
H E
HE
Department of Neurology, University of Colorado School of Medicine, Denver.
Baumbach
L L
LL
Ringel
S P
SP
Russo
L S
LS
Sujansky
E
E
Garcia
C A
CA
D000328:Adult; D000368:Aged; D001706:Biopsy; D005260:Female; D005799:Genes, Dominant; D006651:Histocytochemistry; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009220:Myositis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology