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; H B Ginjaar; A L J Kneppers; E Bakker; M H Breuning; M de Visser

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

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

Authors

A T J M Helderman-van den Enden¹, H B Ginjaar, A L J Kneppers, E Bakker, M H Breuning, M de Visser

Affiliation

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

PMID: 12868501
DOI: 10.1016/s0960-8966(02)00285-7

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.

Publication types

Case Reports

MeSH terms

Adult
Contracture / etiology*
Contracture / physiopathology
Dystrophin / genetics*
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

Substances

Dystrophin