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A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot–Marie–Tooth disease type 1

✍ Scribed by Tsuyoshi Yoshihara; Fumio Kanda; Masahiko Yamamoto; Hiroyuki Ishihara; Ken-ichiro Misu; Naoki Hattori; Kazuo Chihara; Gen Sobue

Book ID: 119465310
Publisher: Elsevier Science
Year: 2001
Tongue: English
Weight: 738 KB
Volume: 184
Category: Article
ISSN: 0022-510X
DOI: 10.1016/s0022-510x(00)00504-9

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Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral