Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity

Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant neuropathy caused by mutations in the mitofusin 2 gene (MFN2). More than 100 MFN2 gene mutations have been reported so far, with majority located within the GTPase domain encoding region. These domain-specific mutations present wid...

Descripción completa

Detalles Bibliográficos
Autores principales: Beręsewicz, Małgorzata, Charzewski, Łukasz, Krzyśko, Krystiana A., Kochański, Andrzej, Zabłocka, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237821/
https://www.ncbi.nlm.nih.gov/pubmed/30442897
http://dx.doi.org/10.1038/s41598-018-35133-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237821/
https://www.ncbi.nlm.nih.gov/pubmed/30442897
http://dx.doi.org/10.1038/s41598-018-35133-9

Ejemplares similares