SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report-Reference-Cited by-同舟云学术

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

Published:2019-01-23 Issue: Volume:9 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Younus Muhammad,Ahmad Farooq,Malik Erum,Bilal Muhammad,Kausar Mehran,Abbas Safdar,Shaheen Shabnam,Kakar Mohib Ullah,Alfadhel Majid,Umair Muhammad

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference21 articles.

1. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.;Bönnemann;Nat. Genet.,1995

2. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy.;Coral-Vazquez;Cell,1999

3. Cadherin-like domains in alpha-dystroglycan, alpha/epsilon-sarcoglycan and yeast and bacterial proteins.;Dickens;Curr. Biol.,2002

4. A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.;Dinçer;Neuromuscul. Disord.,2000

5. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.;Fanin;J. Med. Genet.,1997

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1. Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease;Frontiers in Genetics;2023-10-13

2. Expanding the Genetic and Mutation Spectrum of ASPM-associated Neurodevelopmental Disorders;Journal of Disability Research;2023-09-15

3. Novel homozygous mutation in DYSF gene with limb-girdle muscular dystrophy type 2B through whole exome sequencing in Iran;2023-08-28

4. Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome;Genes;2023-05-19

5. Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by pathogenic splice and missense variants of DYSF gene among Iranians with muscular dystrophy;Advanced Biomedical Research;2023

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