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Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novomutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy

Abstract:

Histiocytoid cardiomyopathy (Histiocytoid CM) is a rare form of cardiomyopathy observed predominantly in newborn females that is fatal unless treated early in life. We have performed whole exome sequencing on five parent-proband trios and identified nuclear-encoded mitochondrial protein mutations in three cases. The molecular genetic basis of Histiocytoid CM remains unknown despite several hypotheses in medical literature. The findings presented in this manuscript may represent components of ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1002/ajmg.a.37138

Authors


Shehata, BM More by this author
Cundiff, CA More by this author
Sabharwal, A More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
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Publisher:
Wiley Publisher's website
Journal:
American Journal of Medical Genetics Part A Journal website
Volume:
167
Issue:
9
Pages:
2114-2121
Publication date:
2015-09-05
DOI:
ISSN:
1552-4825
URN:
uuid:bed023ae-ca06-47a9-880a-c47de2b24aa0
Source identifiers:
575360
Local pid:
pubs:575360

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