Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Multiple Mitochondrial Dysfunction Syndrome (MMDS) comprises a group of severe autosomal recessive diseases with onset in early infancy and characterized by a systemic disorder of energy metabolism, resulting in weakness, respiratory failure, lack of neurological development, lactic acidosis, and ea...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Invernizzi, Federica, Ardissone, Anna, Lamantea, Eleonora, Garavaglia, Barbara, Zeviani, Massimo, Farina, Laura, Ghezzi, Daniele, Moroni, Isabella
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2014
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4238403/
https://ncbi.nlm.nih.gov/pubmed/25477904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2014.00412
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados