This case expands the clinical repertoire of Bethlem myopathy to include respiratory muscle involvement.
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May warrant respiratory evaluation in Bethlem myopathy; extends phenotype but remains hypothesis-generating from one case.
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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Haq et al. (1999) studied this question.
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