Article
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
Neuromuscular disorders : NMD - 1 Oct 2006
Wallefeld William, Krause Sabine, Nowak Kristen J, Dye Danielle, Horváth Rita, Molnár Zoltán, Szabó Miklós, Hashimoto Kazuhiro, Reina Cristina, De Carlos Jose, Rosell Jordi, Cabello Ana, Navarro Carmen, Nishino Ichizo, Lochmüller Hanns, Laing Nigel G
Abstract excerpt
Most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle alpha-actin (ACTA1) genes. Here we report for the first time three patients with severe nemaline myopathy and mutations of the ACTA1 stop codon: TAG>TAT (tyrosine), TAG>CAG (glutamine) and TAG>TGG (tryptophan). All three mutations will cause inclusion of an additional 47 amino acids, translated from the 3' UTR of the gene, into...
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