Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy).
We report the first Japanese patients, a mother and son, with early-onset, benign, autosomal-dominant, limb-girdle myopathy with contractures (Bethlem myopathy). The clinical features revealed predominantly proximal muscle weakness--especially in the limb-girdle muscles--joint contractures increasing with age, a benign course, and the absence of cardiac involvement. Muscle histology revealed nonspecific myopathy changes without dystrophic features. Electromyogram revealed a reduced interference pattern with a giant spike suggesting a neurogenic process.
Tachi
N
N
Department of Pediatrics, Sapporo Medical College, Japan.
Tachi
M
M
Sasaki
K
K
Imamura
S
S
D000328:Adult; D002648:Child; D003286:Contracture / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics / Q000503:physiopathology*; D010388:Pelvis; D012782:Shoulder