Elsevier

Pediatric Neurology

Volume 5, Issue 4, July–August 1989, Pages 232-236
Pediatric Neurology

Case report
Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy)

https://doi.org/10.1016/0887-8994(89)90081-7Get rights and content

Abstract

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 myopathic changes without dystrophic features. Electromyogram revealed a reduced interference pattern with a giant spike suggesting a neurogenic process.

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