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Article

Pediatric Dilated Cardiomyopathy-Associated LRRC10 (Leucine-Rich Repeat-Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L-Type Ca2+ Channels.

Journal of the American Heart Association - 3 Feb 2018

Woon Marites T, Long Pamela A, Reilly Louise, Evans Jared M, Keefe Alexis M, Lea Martin R, Beglinger Carl J, Balijepalli Ravi C, Lee Youngsook, Olson Timothy M, Kamp Timothy J

Abstract excerpt

BACKGROUND: Genetic causes of dilated cardiomyopathy (DCM) are incompletely understood. LRRC10 (leucine-rich repeat-containing 10) is a cardiac-specific protein of unknown function. Heterozygous mutations in LRRC10 have been suggested to cause DCM, and deletion of Lrrc10 in mice results in DCM. METHODS AND RESULTS: Whole-exome sequencing was carried out on a patient who presented at 6 weeks of age with DCM and...

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Share to Calcium Channels, L-Type
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29431102
DOI: 10.1161/JAHA.117.006428
PMCID: PMC5850229

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