Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases – Quantification of striated α-actins by MRM-mass spectrometry
- 1 December 2008
- journal article
- research article
- Published by Elsevier in Neuromuscular Disorders
- Vol. 18 (12) , 953-958
- https://doi.org/10.1016/j.nmd.2008.09.010
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disordersNeuromuscular Disorders, 2005
- Missense mutations of ACTA1 cause dominant congenital myopathy with coresJournal of Medical Genetics, 2004
- Actin mutations are one cause of congenital fibre type disproportionAnnals of Neurology, 2004
- Myopathies resulting from mutations in sarcomeric proteinsCurrent Opinion in Neurology, 2004
- Congenital Nemaline Myopathy due to ACTA1-Gene Mutation and Carnitine Insufficiency: A Case ReportNeuropediatrics, 2001
- Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin GeneAmerican Journal of Human Genetics, 2001
- Nemaline myopathy: A clinical study of 143 casesAnnals of Neurology, 2001
- Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) geneNeuromuscular Disorders, 2001
- Eye muscle sparing by the muscular dystrophies: Lessons to be learned?Microscopy Research and Technique, 2000
- Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathyNature Genetics, 1999