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...

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Detalles Bibliográficos
Autores principales: Younus, Muhammad, Ahmad, Farooq, Malik, Erum, Bilal, Muhammad, Kausar, Mehran, Abbas, Safdar, Shaheen, Shabnam, Kakar, Mohib Ullah, Alfadhel, Majid, Umair, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354032/
https://www.ncbi.nlm.nih.gov/pubmed/30733730
http://dx.doi.org/10.3389/fgene.2018.00727

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354032/
https://www.ncbi.nlm.nih.gov/pubmed/30733730
http://dx.doi.org/10.3389/fgene.2018.00727

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