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Neuromuscul Disord. 2003 May;13(4):317-21.

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.

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1
Center for Human and Clinical Genetics, Leiden University Medical Center K5-R, PO Box 9600, 2300 RC Leiden, The Netherlands. helderman@lumc.nl

Abstract

We describe a patient with somatic mosaicism of a point mutation in the dystrophin gene causing benign muscular dystrophy with an unusual asymmetrical distribution of muscle weakness and contractures. To our knowledge this is the first patient with asymmetrical weakness and contractures in an ambulatory patient with a dystrophinopathy.

PMID:
12868501
[Indexed for MEDLINE]
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