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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 183 - 187 (5page)
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초록· 키워드
오류제보하기
Background We describe herein the application of whole exome sequencing (WES) for themolecular genetic diagnosis of a large Korean family with dominantly inherited myopathy.
Case Report Te afected individuals presented with slowly progressive proximal weakness and ankle contracture. Tey were initially diagnosed with limb-girdle muscular dystrophy (LGMD) based on clinical and pathologic features. However, WES and subsequent capillary sequencing identifed a pathogenic splicing-site mutation (c.1056+1G>A) in COL6A1,which was previously reported to be an underlying cause of Bethlem myopathy. Afer identifcation of the genetic cause of the disease, careful neurologic examination revealed subtlecontracture of the interphalangeal joint in the afected members, which is a characteristicsign of Bethlem myopathy. Terefore, we revised the original diagnosis from LGMD to Bethlem myopathy.
Conclusions Tis is the frst report of identifcation of COL6A1-mediated Bethlem myopathyin Korea, and indicates the utility of WES for the diagnosis of muscular dystrophy.
목차
등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
Baker NL / 2007 / Molecular consequences of dominant Bethlem myopathy collagen VI mutations / Ann Neurol 62 : 390 ~ 405
Bamshad MJ / 2011 / Exome sequencing as a tool for Mendelian disease gene discovery / Nat Rev Genet 12 : 745 ~ 755
Bushby K / 2009 / Diagnosis and management of the limb girdle muscular dystrophies / Pract Neurol 9 : 314 ~ 323
Choi BO / 2012 / Exome-sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease / Hum Mutat 33 : 1610 ~ 1615
Davidson AE / 2013 / Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies / Brain 136 : 508 ~ 521
Bamshad MJ / 2011 / Exome sequencing as a tool for Mendelian disease gene discovery / Nat Rev Genet 12 : 745 ~ 755
Bushby K / 2009 / Diagnosis and management of the limb girdle muscular dystrophies / Pract Neurol 9 : 314 ~ 323
Choi BO / 2012 / Exome-sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease / Hum Mutat 33 : 1610 ~ 1615
Davidson AE / 2013 / Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies / Brain 136 : 508 ~ 521
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