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Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1

  • Published:2010-04 Issue:4 Volume:20 Page:238-240
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Hung Ryan M.,Yoon Grace,Hawkins Cynthia E.,Halliday Willliam,Biggar Doug,Vajsar Jiri

Publisher

Elsevier BV

Subject

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

Cited by 52 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. A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy;Neuromuscular Disorders;2024-01

2. MICAL-mediated oxidation of actin and its effects on cytoskeletal and cellular dynamics;Frontiers in Cell and Developmental Biology;2023-02-17

3. Congenital myopathies;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

4. A review of major causative genes in congenital myopathies;Journal of Human Genetics;2022-06-07

5. Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy;Clinical Genetics;2021-02-11
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