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Case Reports
. 2003 May;13(4):317-21.
doi: 10.1016/s0960-8966(02)00285-7.

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

A T J M Helderman-van den Enden  1 , H B Ginjaar, A L J Kneppers, E Bakker, M H Breuning, M de Visser
Affiliations
Case Reports

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

A T J M Helderman-van den Enden et al. Neuromuscul Disord. 2003 May.

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.

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