Animal cells and systems

  • 제15권4호
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  • Pages.301-309
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  • 2011
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  • 1976-8354(pISSN)
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  • 2151-2485(eISSN)
한국통합생물학회 (The Korean Society for Integrative Biology)
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Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12

  • Kanwal, Sumaira (Department of Biological Science and Research Institute of Biotechnology, Kongju National University) ;
  • Choi, Byung-Ok (Department of Neurology, Ewha Womans University, School of Medicine) ;
  • Kim, Sang-Beom (Department of Neurology, Kyung Hee University, School of Medicine) ;
  • Koo, Hea-Soo (Department of Pathology, Ewha Womans University, School of Medicine) ;
  • Kim, Jee-Young (Department of Neurology, Ewha Womans University, School of Medicine) ;
  • Hyun, Young-Se (Department of Biological Science and Research Institute of Biotechnology, Kongju National University) ;
  • Lee, Hye-Jin (Department of Biological Science and Research Institute of Biotechnology, Kongju National University) ;
  • Chung, Ki-Wha (Department of Biological Science and Research Institute of Biotechnology, Kongju National University)
  • 투고 : 2011.01.14
  • 심사 : 2011.03.10
  • 발행 : 2011.12.31
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초록

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

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