Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7.

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

Author information

  • 1Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden. carola.hedberg@gu.se

Abstract

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.

Comment in

  • Reply to Brodehl et al. [Eur J Hum Genet. 2013]
  • Functional characterization of desmin mutant p.P419S. [Eur J Hum Genet. 2013]
PMID:
22395865
[PubMed - indexed for MEDLINE]
PMCID:
PMC3421124
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group Icon for PubMed Central
    Loading ...
    Write to the Help Desk