Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot-Marie-Tooth type 2A

Charcot-Marie-Tooth (CMT) is a group of inherited peripheral neuropathies. To date, mutations in >80 genes are reportedly associated with CMT. Protein mitofusin 2 encoded by MFN2 serves an essential role in mitochondrial fusion and regulation of apoptosis, which has previously been reported to be...

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Detalles Bibliográficos
Autores principales: You, Yi, Wang, Xiaodong, Li, Shan, Zhao, Xiuli, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122517/
https://www.ncbi.nlm.nih.gov/pubmed/30210586
http://dx.doi.org/10.3892/etm.2018.6513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122517/
https://www.ncbi.nlm.nih.gov/pubmed/30210586
http://dx.doi.org/10.3892/etm.2018.6513

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