Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)-Reference-Cited by-同舟云学术

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

Published:2006-10 Issue:9-10 Volume:16 Page:541-547
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Wallefeld William,Krause Sabine,Nowak Kristen J.,Dye Danielle,Horváth Rita,Molnár Zoltán,Szabó Miklós,Hashimoto Kazuhiro,Reina Cristina,Carlos Jose De,Rosell Jordi,Cabello Ana,Navarro Carmen,Nishino Ichizo,Lochmüller Hanns,Laing Nigel G.

Publisher

Elsevier BV

Subject

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

Reference10 articles.

1. Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin;Wallgren-Pettersson;Neuromuscul Disord,2004

2. When contractile proteins go bad: the sarcomere and skeletal muscle disease;Laing;BioEssays,2005

3. Missense mutations of ACTA1 cause dominant congenital myopathy with cores;Kaindl;J Med Genet,2004

4. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms;Ilkovski;Hum Mol Genet,2004

5. Muscle disease caused by mutations in the skeletal muscle α-actin gene (ACTA1);Sparrow;Neuromusc Disord,2003

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