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Respiratory muscle involvement in Bethlem myopathy

From the Department of Neurology (Drs. Haq and Tandan), University of Vermont College of Medicine, Burlington, VT; the Department of Medicine (Dr. Speer), Section of Medical Genetics, Duke University Medical Center, Durham, NC; and the Departments of Dermatology and Cutaneous Biology, Biochemistry and Molecular Pharmacology (Dr. Chu), Thomas Jefferson University Medical Center, Philadelphia, PA.

Address correspondence and reprint request to Dr. Rup Tandan, Room B 202, Given Building, University of Vermont College of Medicine, Burlington, VT 05405; e-mail: Tandan{at}salus.med.uvm.edu

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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