The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient

Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2). Mitofusin 2 is a GTPase protein present in the outer mitochondrial membrane and responsible for regulation of mitochondrial network architecture via t...

Descripción completa

Detalles Bibliográficos
Autores principales: Beręsewicz, Małgorzata, Boratyńska-Jasińska, Anna, Charzewski, Łukasz, Kawalec, Maria, Kabzińska, Dagmara, Kochański, Andrzej, Krzyśko, Krystiana A., Zabłocka, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226824/
https://www.ncbi.nlm.nih.gov/pubmed/28076385
http://dx.doi.org/10.1371/journal.pone.0169999

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226824/
https://www.ncbi.nlm.nih.gov/pubmed/28076385
http://dx.doi.org/10.1371/journal.pone.0169999

Ejemplares similares