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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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Detalles Bibliográficos
Autores principales: Ma, Yan, Sun, Aping, Zhang, Yingshuang, Fan, Dongsheng, Liu, Xiaoxuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8548668/
https://www.ncbi.nlm.nih.gov/pubmed/34721278
http://dx.doi.org/10.3389/fneur.2021.757518

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