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Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

OBJECTIVE : To identify the genetic characteristics in a large-scale of patients with Charcot-Marie-Tooth disease (CMT). METHODS: From May 2012 to August 2016, we collected 1005 cases with suspected CMT throughout Japan, whereas PMP22 duplication/deletion were excluded in advance for demyelinating C...

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Detalles Bibliográficos
Autores principales:	Yoshimura, Akiko, Yuan, Jun-Hui, Hashiguchi, Akihiro, Ando, Masahiro, Higuchi, Yujiro, Nakamura, Tomonori, Okamoto, Yuji, Nakagawa, Masanori, Takashima, Hiroshi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2019
Materias:	Neurogenetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518473/ https://www.ncbi.nlm.nih.gov/pubmed/30257968 http://dx.doi.org/10.1136/jnnp-2018-318839

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