Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12

• Published in: Animal cells and systems Vol. 15; no. 4; pp. 301 - 309
• Main Authors: Kanwal, Sumaira, Kongju National University, Gongju, Republic of Korea, Choi, B.O., Ewha Womans University, School of Medicine, Seoul, Republic of Korea, Kim, S.B., Kyung Hee University, School of Medicine, Seoul, Republic of Korea, Koo, H.S., Ewha Womans University, School of Medicine, Seoul, Republic of Korea, Kim, J.Y., Ewha Womans University, School of Medicine, Seoul, Republic of Korea, Hyun, Y.S., Kongju National University, Gongju, Republic of Korea, Lee, H.J., Kongju National University, Gongju, Republic of Korea, Chung, K.W., Kongju National University, Gongju, Republic of Korea
• Format: Journal Article
• Language: English
• Published: Daejeon Taylor & Francis Group 01.12.2011; Taylor & Francis Ltd; 한국통합생물학회
• Subjects: Charcot-Marie-Tooth disease type 1A; Charcot-Marie-Tooth disease type 1A (CMT1A); copy number variation; copy number variation (CNV); FENOTIPOS; Genes; Genetics; Heterogeneity; nonrecurrent rearrangements; PHENOTYPE; PHENOTYPES; Phenotypic variations; PMP22; 생물학

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 Charc...