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

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 ambula...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2003-05, Vol.13 (4), p.317-321
Main Authors: Helderman-van den Enden, A.T.J.M., Ginjaar, H.B., Kneppers, A.L.J., Bakker, E., Breuning, M.H., de Visser, M.
Format: Article
Language:English
Subjects:
Adult
Asymmetrical muscle weakness
Contracture
Contracture - etiology
Contracture - physiopathology
Dystrophin - genetics
Dystrophin gene
Humans
Immunohistochemistry
Male
Mosaicism
Muscle, Skeletal - pathology
Muscle, Skeletal - physiopathology
Muscular Dystrophies - complications
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
Muscular Dystrophies - physiopathology
Point Mutation
Polymerase Chain Reaction
Somatic mosaicism
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Summary: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.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(02)00285-7