Genetics of GNE myopathy in the non-Jewish Persian population

GNE myopathy is an autosomal recessive adult-onset disorder characterized by progressive muscle atrophy and weakness, initially involving the distal muscles, while often sparing the quadriceps. It is caused by variants in the GNE gene that encodes a key bifunctional enzyme in the sialic acid biosynt...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Haghighi, Alireza, Nafissi, Shahriar, Qurashi, Abrar, Tan, Zheng, Shamshiri, Hosein, Nilipour, Yalda, Haghighi, Amirreza, Desnick, Robert J, Kornreich, Ruth
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4717203/
https://ncbi.nlm.nih.gov/pubmed/25966635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.78
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker