SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

OBJECTIVE: To investigate whether mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth (CMT) disease. METHODS: We describe 2 patients from a consanguineous family with demyelinating autosomal recessive CMT disease (CMT4) associated with the homozygous splice site mutation c.107-2A>G in...

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Detalhes bibliográficos
Main Authors: Echaniz-Laguna, Andoni, Ghezzi, Daniele, Chassagne, Maïté, Mayençon, Martine, Padet, Sylvie, Melchionda, Laura, Rouvet, Isabelle, Lannes, Béatrice, Bozon, Dominique, Latour, Philippe, Zeviani, Massimo, Mousson de Camaret, Bénédicte
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3888171/
https://ncbi.nlm.nih.gov/pubmed/24027061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a4a518
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