지원사업
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
- 2011.1
- 수록면
- 301 - 309 (9page)
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초록· 키워드
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Charcot-Marie-Tooth disease (CMT) is clinically heterogeneous hereditary motor and sensory neuropathies with genetic heterogeneity, age-dependent penetrance, and variable expressivity. Rare copy number variations by nonrecurrent rearrangements have recently been suggested to be associated with Charcot-Marie-Tooth 1A (CMT1A) neuropathy. In our previous study, we found three Korean CMT1A families with rare copy number variations (CNVs) on 17p12 by nonrecurrent rearrangement. Careful clinical examinations were performed in all the affected individuals with rare CNVs (n=19), which may be the first full study of a subject from a large CMT1A family with nonrecurrent rearrangement. The clinical phenotype showed no significant difference compared with common CMT1A patients, but with variable phenotypes. In particular, a broad intrafamilial phenotypic spectrum was observed within the same family, which may suggest the existence of a genetic modifier. This study may broaden the understanding of the role of CNVs in the pathogenesis of CMT.
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참고문헌 (26)
참고문헌 신청
안동하 / 2011 / Isolation and characterization of microsatellite loci in the Korean crayfish, Cambaroides similis and application to natural population analysis / Animal Cells and Systems 15(1):37~43
Birouk N / 1997 / Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases / Brain 120:813~823
Birouk N / 1998 / X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study / Neurology 50:1074~1082
Chance PF / 1993 / DNA deletion associated with hereditary neuropathy with liability to pressure palsies / Cell 72:143~151
Ki Wha Chung / 2007 / Rapid Diagnosis of CMT1A Duplications and HNPP Deletions by Multiplex Microsatellite PCR / Molecules and Cells 23(1):39~48
Birouk N / 1997 / Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases / Brain 120:813~823
Birouk N / 1998 / X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study / Neurology 50:1074~1082
Chance PF / 1993 / DNA deletion associated with hereditary neuropathy with liability to pressure palsies / Cell 72:143~151
Ki Wha Chung / 2007 / Rapid Diagnosis of CMT1A Duplications and HNPP Deletions by Multiplex Microsatellite PCR / Molecules and Cells 23(1):39~48
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