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  • Title: Respiratory muscle involvement in Bethlem myopathy.
    Author: Haq RU, Speer MC, Chu ML, Tandan R.
    Journal: Neurology; 1999 Jan 01; 52(1):174-6. PubMed ID: 9921869.
    Abstract:
    We report a patient from a previously reported family with autosomal dominant Bethlem myopathy who demonstrated childhood onset, slowly progressive limb-girdle muscle weakness, contractures, and progressive respiratory compromise. Chest x-ray, pulmonary function tests, and electrophysiologic studies suggested respiratory muscle involvement, thus expanding the clinical repertoire in Bethlem myopathy.
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