Somatic mosaicism for a DMD gene deletion
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference34 articles.
1. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide
2. Germline mosaicism and Duchenne muscular dystrophy mutations
3. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
4. Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.
5. Dystrophin is transcribed in brain from a distant upstream promoter.
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1. A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center;Frontiers in Neurology;2020-09-30
2. Isolated cardiomyopathy caused by aDMDnonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle;Clinical Genetics;2011-12-13
3. Somatic mosaicism for Duchenne dystrophy: Evidence for genetic normalization mitigating muscle symptoms;American Journal of Medical Genetics Part A;2009-07
4. Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures;Neuromuscular Disorders;2003-05
5. Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy;American Journal of Medical Genetics;2003-04-30
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