Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

OBJECTIVE: We report novel defects of mitochondrial translation elongation factor Ts (EFTs), with high carrier frequency in Finland and expand the manifestations of this disease group from infantile cardiomyopathy to juvenile neuropathy/encephalopathy disorders. METHODS: DNA analysis, whole-exome an...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Ahola, Sofia, Isohanni, Pirjo, Euro, Liliya, Brilhante, Virginia, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Lehtonen, Tanita, Laine, Jukka, Tyynismaa, Henna, Suomalainen, Anu
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2014
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4150129/
https://ncbi.nlm.nih.gov/pubmed/25037205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000716
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker