A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F-Reference-Cited by-同舟云学术

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A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

Published:2000-06 Issue:4-5 Volume:10 Page:247-250
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Dinçer P,Bönnemann C.G,Erdir Aker Ö,Akçören Z,Nigro V,Kunkel L.M,Topaloǧlu H

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference22 articles.

1. Ben Othmane K;Noguchi;Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science,1995

2. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy;Roberds;Cell,1994

3. β-sarcoglycan (43DAG): characterization and involvement in a recessive form of limb girdle muscular dystrophy linked to chromosome 4q12;Lim;Nat Genet,1995

4. β-sarcoglycan mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex;Bönnemann;Nat Genet,1995

5. Linkage analysis in autosomal recessive limb girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33–34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD;Passos-Bueno;Hum Mol Genet,1996

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review;Journal of Neuromuscular Diseases;2022-07-01

2. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy;Brain;2021-09-13

3. SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report;Frontiers in Genetics;2019-01-23

4. Limb-Girdle Muscular Dystrophy Type 2F;Genetic Neuromuscular Disorders;2017-10-06

5. Pathogenesis, clinical features and diagnosis of sarcoglycanopathies;Expert Opinion on Orphan Drugs;2016-11-17

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