A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I-Reference-Cited by-同舟云学术

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A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I

Published:2007-05 Issue:4 Volume:29 Page:234-238
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Lin Yi-Ching,Murakami Terumi,Hayashi Yukiko K.,Nishino Ichizo,Nonaka Ikuya,Yuo Chung-Yee,Jong Yuh-Jyh

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as milder allelic variant of congenital muscular dystrophy MDC1C;Brockington;Hum Mol Genet,2001

2. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations;Frosk;Hum Mutat,2005

3. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype;Schwartz;Neurology,2005

4. Leiter international performance scale-revised;Roid,1997

5. The phenotype of limb-girdle muscular dystrophy type 2I;Poppe;Neurology,2003

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. FKRP‐related muscular dystrophy responsive to immunotherapy;Muscle & Nerve;2024-03-31

2. Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review;Journal of Clinical Neuromuscular Disease;2023-12

3. CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy;Cells;2023-10-12

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

5. Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages;Neuropathology and Applied Neurobiology;2021-05-28

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