Associated Papers
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
40225930 (PubMed )
Supplement: 6496088.f1.docx
New era in genetics of early-onset muscle disease: Breakthroughs and challenges.
Ravenscroft G et al.
Seminars in Cell & Developmental Biology, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Punetha J et al.
Journal of Neuromuscular Diseases, 2016
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.
Sztal TE et al.
Acta Neuropathologica, 2015
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
O'Grady GL et al.
European Journal of Human Genetics : Ejhg, 2015
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