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  • Title: Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy).
    Author: Tachi N, Tachi M, Sasaki K, Imamura S.
    Journal: Pediatr Neurol; 1989; 5(4):232-6. PubMed ID: 2803379.
    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 myopathy changes without dystrophic features. Electromyogram revealed a reduced interference pattern with a giant spike suggesting a neurogenic process.
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