Respiratory muscle involvement in Bethlem myopathy.

Haq, R U; Speer, M C; Chu, M L; Tandan, R · Neurology · 1999

case_report · Level V

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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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