Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C-Reference-Cited by-同舟云学术

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

Published:2001-12-01 Issue:25 Volume:10 Page:2851-2859
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:
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Author:

Brockington M.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/10/25/2851/9813591/102851.pdf

Cited by 425 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

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2. Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India;Neurogenetics;2024-08-05

3. Dual FKRP/FST gene therapy normalizes ambulation, increases strength, decreases pathology, and amplifies gene expression in LGMDR9 mice;Molecular Therapy;2024-08

4. Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies;Journal of Muscle Research and Cell Motility;2024-04-18

5. Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9;Journal of Neuromuscular Diseases;2024-01-02

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