Loading...

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations. FCMD is the second most common form of muscular dystrophy after Duchenne muscular dystrophy and one of the most common aut...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Gene
Main Authors: Ismail, Samira, Schaffer, Ashleigh E., Rosti, Rasim O., Gleeson, Joseph G., Zaki, Maha S.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5226855/
https://ncbi.nlm.nih.gov/pubmed/24530477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2014.01.070
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!