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The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort

Introduction: Charcot–Marie–Tooth disease type 2A (CMT2A) is a group of clinically and genetically heterogeneous disorders, which is mostly caused by mutations of the mitofusin2 (MFN2) gene. As the genotype–phenotype characteristics of CMT2A were still incompletely understood, we further explored th...

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Principais autores: Yan Ma, Aping Sun, Yingshuang Zhang, Dongsheng Fan, Xiaoxuan Liu
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021-10-01
coleção:Frontiers in Neurology
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Acesso em linha:https://www.frontiersin.org/articles/10.3389/fneur.2021.757518/full
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