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Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

  • Rebecca Sparkes (a1), David Patton (a2) and Francois Bernier (a1)
Abstract

Dilated cardiomyopathy as seen in children is clinically and genetically heterogeneous, with an increasing proportion of cases known to be caused by disorders of single genes. An autosomal recessive syndrome with a high incidence of dilated cardiomyopathy was recently described in the Canadian Dariusleut Hutterite population. It is caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins. We discuss the cardiac features of this syndrome, and its relationship to cardiac mitochondrial function.

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Corresponding author
Correspondence to: Dr. Francois Bernier, Department of Medical Genetics, Alberta Children's Hospital, 2888 Shaganappi Trail N.W., Calgary, Alberta T38 6A8, Canada. Tel: +403 955 7373; Fax: +403 955 2701; E-mail: francois.bernier@calgaryhealthregion.ca
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References

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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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