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Female Carriers of Duchenne Muscular Dystrophy

Authors
 Yu Na Cho  ;  Young-Chul Choi 
Citation
 Journal of Genetic Medicine (대한의학유전학회지), Vol.10(2) : 94-98, 2013 
Journal Title
Journal of Genetic Medicine(대한의학유전학회지)
ISSN
 1226-1769 
Issue Date
2013
Keywords
Dystrophinopathy ; Duchenne muscular dystrophy ; Female carrier ; Multiplex ligation-dependent probe amplification
Abstract
Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.
Files in This Item:
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DOI
10.5734/JGM.2013.10.2.94
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Cho, Yu Na(조유나)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/88764
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