Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
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ABSTRACT:
SUBMITTER: Hedberg C
PROVIDER: S-EPMC3421124 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
Hedberg Carola C Melberg Atle A Kuhl Angelika A Jenne Dieter D Oldfors Anders A
European journal of human genetics : EJHG 20120307 9
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 ...[more]
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