HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Mohire, M. D. Articles by Bradley, W. G. Search for Related Content PubMed PubMed Citation Articles by Mohire, M. D. Articles by Bradley, W. G.

Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy)

From the Departments of Neurology (Drs. Mohire, Tandan, Fries, and Bradley) and Pathology (Drs. Little and Pendlebury) (Division of Neuropathology), University of Vermont College of Medicine, Burlington, VT.

We report a large French-Canadian kindred with 33 affected members in six generations showing early-onset autosomal dominant limb-girdle myopathy and contractures. This myopathy is unique because of its benign course, with many members only minimally impaired even in old age. Examination of affected members revealed mild to moderate proximal weakness and wasting. Contractures were observed at the elbows and ankles in all, while in some they were more widespread. Serum CK was either normal or slightly raised, and electrodiagnostic studies suggested a primary myopathy. Muscle biopsy revealed nonspecific features of a myopathy without fiber necrosis or regeneration. Cardiac involvement was absent clinically in all patients and at autopsy in two affected individuals. The similarities between four previously reported families and our own establishes this myopathy as a distinct clinicogenetic entity, for which we propose the name "Bethlem myopathy."

Address correspondence and reprint requests to Dr. Bradley, Department of Neurology, One South Prospect Street, Burlington, VT 05401.

Received June 11, 1987. Accepted for publication in final form August 7, 1987.

This article has been cited by other articles:

				A. J. van der Kooi, W. G. de Voogt, and M. de Visser Cardiac Involvement in Bethlem Myopathy--Reply Arch Neurol, June 1, 2007; 64(6): 915 - 916. [Full Text] [PDF]

				A. J. van der Kooi, W. G. de Voogt, E. Bertini, L. Merlini, F. B. Talim, R. Ben Yaou, A. Urtziberea, and M. de Visser Cardiac and Pulmonary Investigations in Bethlem Myopathy Arch Neurol, November 1, 2006; 63(11): 1617 - 1621. [Abstract] [Full Text] [PDF]

				A K Lampe and K M D Bushby Collagen VI related muscle disorders J. Med. Genet., September 1, 2005; 42(9): 673 - 685. [Abstract] [Full Text] [PDF]

				P. C. Scacheri, E. M. Gillanders, S. H. Subramony, V. Vedanarayanan, C. A. Crowe, N. Thakore, M. Bingler, and E. P. Hoffman Novel mutations in collagen VI genes: Expansion of the Bethlem myopathy phenotype Neurology, February 26, 2002; 58(4): 593 - 602. [Abstract] [Full Text] [PDF]

				G. J. Jobsis, J. M. Boers, P. G. Barth, and M. de Visser Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures Brain, April 1, 1999; 122(4): 649 - 655. [Abstract] [Full Text] [PDF]

				R. U. Haq, M. C. Speer, M.-L. Chu, and R. Tandan Respiratory muscle involvement in Bethlem myopathy Neurology, January 1, 1999; 52(1): 174 - 174. [Abstract] [Full Text]

				H.-J. Kuo, C. L. Maslen, D. R. Keene, and R. W. Glanville Type VI Collagen Anchors Endothelial Basement Membranes by Interacting with Type IV Collagen J. Biol. Chem., October 17, 1997; 272(42): 26522 - 26529. [Abstract] [Full Text] [PDF]