MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families

BACKGROUND: Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common cause of CMT2. METHODS: Two-hundred and thirty-two consecutive unselected a...

Descripción completa

Detalles Bibliográficos
Autores principales: Braathen, Geir J, Sand, Jette C, Lobato, Ana, Høyer, Helle, Russell, Michael B
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859816/
https://www.ncbi.nlm.nih.gov/pubmed/20350294
http://dx.doi.org/10.1186/1471-2350-11-48

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859816/
https://www.ncbi.nlm.nih.gov/pubmed/20350294
http://dx.doi.org/10.1186/1471-2350-11-48

Ejemplares similares