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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

Journal article
Authors Carola Hedberg
A. Melberg
A. Kuhl
D. Jenne
Anders Oldfors
Published in European Journal of Human Genetics
Volume 20
Issue 9
Pages 984-985
ISSN 1018-4813
Publication year 2012
Published at Institute of Biomedicine, Department of Pathology
Pages 984-985
Language en
Keywords myofibrillar myopathy, desmin, DES mutation, arrhythmogenic right ventricular cardiomyopathy 7, muscle disease, skeletal, gene
Subject categories Pathology


Using exome sequencing we searched for the genetic cause of autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARVC) in a Swedish family. A heterozygous C-to-T transition, c.1255C>T, p.Pro419Ser in the desmin gene on chromosome 2q35, was identified. Previous studies had demonstrated linkage to chromosome 10q22.3, but no causative mutation had been found in that region. Sanger sequencing of DNA from 17 family members confirmed the heterozygous c.1255C>T desmin mutation in seven out of ten family members that had been classified as affected in the previous study. Our new results demonstrate the usefulness of next-generation sequencing, and the diagnostic difficulties with some forms of dominantly inherited muscle diseases as they can display a wide clinical and morphological variability even within a given family. European Journal of Human Genetics (2012) 20, 984-985; doi:10.1038/ejhg.2012.39; published online 7 March 2012

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