RT Journal Article
SR Electronic
T1 Respiratory muscle involvement in Bethlem myopathy
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 174
OP 174
DO 10.1212/WNL.52.1.174
VO 52
IS 1
A1 Haq, Rizwan U.
A1 Speer, Marcy C.
A1 Chu, Mon-Li
A1 Tandan, Rup
YR 1999
UL http://n.neurology.org/content/52/1/174.abstract
AB Article 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.