Adult-onset, autosomal dominant, rimmed vacuolar myopathy with limb-girdle distribution--a preliminary report.
Adult-onset, autosomal dominant myopathy with limb-girdle distribution in a Chinese family is reported. Nine members were affected with characteristic proximal weakness and pelvifemoral-preceded scapulohumeral involvement. The facial, extraocular and bulbar muscles were spared. Rimmed vacuoles were the most obvious characteristics in the myopathologic study of the biopsy specimens from four patients. In a review of the previous literature, we found three reported families with clinical and myopathologic features identical to ours, and these families are viewed as a distinct subgroup of myopathy.
Chang
W N
WN
Department of Neurology, Chang Gung Memorial Hospital, Kaohsiung Hsien, Taiwan, R.O.C.
Lee
C C
CC
Chen
S S
SS
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree