SGCD Homozygous Nonsense Mutation (p.Arg97(∗)) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report

Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inherited muscle diseases, mainly affecting the muscles of shoulder areas and the hip, segregating in both autosomal recessive and dominant manner. To-date, thirty-one loci have been identified for LGMD in...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Younus, Muhammad, Ahmad, Farooq, Malik, Erum, Bilal, Muhammad, Kausar, Mehran, Abbas, Safdar, Shaheen, Shabnam, Kakar, Mohib Ullah, Alfadhel, Majid, Umair, Muhammad
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6354032/
https://ncbi.nlm.nih.gov/pubmed/30733730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00727
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados