Quadriceps myopathy: forme fruste of Becker muscular dystrophy.
We examined dystrophin, the protein product of the Duchenne muscular dystrophy gene, in muscle biopsy specimens from 4 male patients with quadriceps myopathy, all of whom showed a mild and slowly progressive myopathy confined to the quadriceps muscles. All 4 patients had clear abnormalities of dystrophin, and were diagnosed as having Becker muscular dystrophy by both immunofluorescence and immunoblot examinations; that is, dystrophin of an abnormal molecular mass was visualized in muscle cryosections as "patchy" or discontinuous immunostaining at the surface membrane of the muscle fibers. One patient had a brother who showed widespread myopathic changes consistent with typical Becker muscular dystrophy. We conclude that the syndrome called quadriceps myopathy includes a group of forme fruste Becker muscular dystrophy.
Sunohara
N
N
Department of Neurology, National Center Hospital, Tokyo, Japan.
Arahata
K
K
Hoffman
E P
EP
Yamada
H
H
Nishimiya
J
J
Arikawa
E
E
Kaido
M
M
Nonaka
I
I
Sugita
H
H
D000328:Adult; D000368:Aged; D016189:Dystrophin / Q000032:analysis*; D004576:Electromyography; D005455:Fluorescent Antibody Technique; D006801:Humans; D006984:Hypertrophy; D015151:Immunoblotting; D007866:Leg; D008297:Male; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D010375:Pedigree; D013848:Thigh
D016189:Dystrophin