Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures-Reference-Cited by-同舟云学术

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

Published:2003-05 Issue:4 Volume:13 Page:317-321
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands;van Essen;Hum Genet,1992

2. Duchenne and Becker muscular dystrophy (DMD and BMD);Bakker,1998

3. Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions;Bunyan;Hum Genet,1995

4. Germinal mosaicism increases the recurrence risk for ‘new’ Duchenne muscular dystrophy mutations;Bakker;J Med Genet,1989

5. Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study;van Essen;Hum Genet,1992

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies;Neuromuscular Disorders;2022-12

2. DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism;Neuromuscular Disorders;2021-12

3. Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes;PLoS ONE;2013-03-25

4. Isolated cardiomyopathy caused by aDMDnonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle;Clinical Genetics;2011-12-13

5. Somatic gene mutation and human disease other than cancer: An update;Mutation Research/Reviews in Mutation Research;2010-10

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