지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 94 - 98 (5page)
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초록· 키워드
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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.
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참고문헌 (61)
참고문헌 신청
Moser H / 1974 / The manifesting carrier in Duchenne muscular dystrophy / Clin Genet 5:271~284
Norman A / 1989 / A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales / Clin Genet 36:31~37
Hoffman EP / 1992 / Dystrophinopathy in isolated cases of myopathy in females / Neurology 42:967~975
Taylor PJ / 2007 / Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy / J Med Genet 44:368~372
Duchenne GB / 1861 / De l'électrisation localisée et de son application à la physiologie, à la pathologie et à la thérapeutique / Baillière
Norman A / 1989 / A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales / Clin Genet 36:31~37
Hoffman EP / 1992 / Dystrophinopathy in isolated cases of myopathy in females / Neurology 42:967~975
Taylor PJ / 2007 / Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy / J Med Genet 44:368~372
Duchenne GB / 1861 / De l'électrisation localisée et de son application à la physiologie, à la pathologie et à la thérapeutique / Baillière
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