Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series

Ramelli, G P; Joncourt, F; Luetschg, J; Weis, J; Tolnay, M; Burgunder, J M (2006). Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series. Swiss medical weekly, 136(11-12), pp. 189-93. Muttenz: EMH Schweizerischer Ärzteverlag

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Both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients are less affected clinically than DMD patients. We present five patients with a diagnosis of BMD. First, two identical twins, with a deletion of exon 48 of the dystrophin gene, who experienced prominent muscle cramps from the age of three. The histopathological examination of muscle biopsies of these two twins revealed only very slight muscle fiber alterations. Second, two brothers who displayed marked, unusual intrafamilial variability of the clinical picture as well as showing a new point mutation in the dystrophin gene. And finally, a fifth boy who displayed a new point mutation in the dystrophin gene. Although he was clinically asymptomatic at the age of 15 and muscle biopsy only showed very minor myopathic signs, serum Creatine Kinase (CK) levels had been considerably elevated for years. Taken together, these cases add to the spectrum of marked discrepancies in clinical, histopathological and molecular genetic findings in BMD.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Burgunder, Jean-Marc

ISSN:

1424-7860

ISBN:

16633967

Publisher:

EMH Schweizerischer Ärzteverlag

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:50

Last Modified:

06 Dec 2013 13:43

PubMed ID:

16633967

Web of Science ID:

000236589800005

URI:

https://boris.unibe.ch/id/eprint/20959 (FactScience: 4771)

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