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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
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2012 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 20, no 9, 984-985 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2012. Vol. 20, no 9, 984-985 p.
Keyword [en]
myofibrillar myopathy, desmin, DES mutation, arrhythmogenic right ventricular cardiomyopathy 7, exome sequencing
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-181839DOI: 10.1038/ejhg.2012.39ISI: 000307633700013OAI: oai:DiVA.org:uu-181839DiVA: diva2:558134
Available from: 2012-10-02 Created: 2012-10-01 Last updated: 2012-10-02Bibliographically approved

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