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Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

  • Published:2001-09 Issue:6-7 Volume:11 Page:547-555
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Chae Jonghee,Minami Narihiro,Jin Yuko,Nakagawa Masahiro,Murayama Kumiko,Igarashi Fumie,Nonaka Ikuya

Publisher

Elsevier BV

Subject

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

Cited by 90 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. Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1;Orphanet Journal of Rare Diseases;2024-04-01

2. Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb‐Girdel Muscular Dystropy Model;Clinical Genetics;2023-03-31

3. Autosomal Recessive Limb-Girdle Muscular Dystrophies;Current Clinical Neurology;2023

4. Neurogenetic motor disorders;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

5. Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India;Journal of Neuromuscular Diseases;2022-07-01
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