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

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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Bibliographic Details
Main Authors: Muhammad Younus, Farooq Ahmad, Erum Malik, Muhammad Bilal, Mehran Kausar, Safdar Abbas, Shabnam Shaheen, Mohib Ullah Kakar, Majid Alfadhel, Muhammad Umair
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-01-01
Series:Frontiers in Genetics
Subjects:
limb-girdle muscular dystrophies
LGMD
targeted NGS
SGCD
LGMD2F
homozygous variant
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00727/full

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