Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

被引：27

作者：

Wallefeld, William

Krause, Sabine

Nowak, Kristen J.

Dye, Danielle

Horvath, Rita

Molnar, Zoltan

Szabo, Miklos

Hashimoto, Kazuhiro

Reina, Cristina

De Carlos, Jose

Rosell, Jordi

Cabello, Ana

Navarro, Carmen

Nishino, Ichizo

Lochmuller, Hanns

Laing, Nigel G.

机构：

[1] Univ Western Australia, Med Res Ctr, Mol Neurogenet Lab,Queen Elizabeth II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia

[2] Univ Munich, Dept Neurol, Friedrich Baur Inst, Mol Myol Lab, D-81377 Munich, Germany

[3] Semmelweis Univ, Dept Pediat 1, H-1083 Budapest, Hungary

[4] Otsu Red Cross Hosp, Dept Pediat, Shiga, Japan

[5] Univ Hosp Son Dureta, Pediat Intens Care Unit, Palma de Mallorca, Spain

[6] Univ Hosp Son Dureta, Dept Genet, Palma de Mallorca, Spain

[7] Univ Hosp 12 Octubre, Madrid, Spain

[8] Univ Hosp Vigo, Dept Pathol & Neuropathol, Vigo, Spain

[9] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo 1878502, Japan

来源：

NEUROMUSCULAR DISORDERS | 2006年 / 16卷 / 9-10期

基金：

英国医学研究理事会;

关键词：

nemaline myopathy; skeletal muscle alpha actin (ACTA1); stop codon mutations;

D O I：

10.1016/j.nmd.2006.07.018

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 the mature actin protein. Western blotting of one patient's muscle demonstrated the presence of the larger protein, while expression of one of the other mutant proteins fused to EGFP in C2C12 cells demonstrated the formation of rod bodies. (C) 2006 Elsevier B.V. All rights reserved.

引用

页码：541 / 547

页数：7

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