MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

Disorders of mitochondrial DNA (mtDNA) maintenance are clinically and genetically heterogeneous, embracing recessive mtDNA depletion syndromes affecting children and adult-onset multiple mtDNA deletion disorders. Here we show that mutation of MPV17 – a gene implicated in severe, infantile hepatocere...

Descripción completa

Detalles Bibliográficos
Autores principales: Blakely, Emma L., Butterworth, Anna, Hadden, Robert D.M., Bodi, Istvan, He, Langping, McFarland, Robert, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3387382/
https://www.ncbi.nlm.nih.gov/pubmed/22508010
http://dx.doi.org/10.1016/j.nmd.2012.03.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3387382/
https://www.ncbi.nlm.nih.gov/pubmed/22508010
http://dx.doi.org/10.1016/j.nmd.2012.03.006

Ejemplares similares