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Article

Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.

BMC medical genetics - 17 Nov 2016

Hanley Alan, Walsh Katie A, Joyce Caroline, McLellan Michael A, Clauss Sebastian, Hagen Amaya, Shea Marisa A, Tucker Nathan R, Lin Honghuang, Fahy Gerard J, Ellinor Patrick T

Abstract excerpt

BACKGROUND: The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases. METHODS: We report two large families with pleiotropic inherited cardiomyopathy. In addition to DCM, the phenotypes included atrial and ventricular septal defects, cardiac arrhythmia and...

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Share to Amino Acids
Share to Cardiomyopathy, Dilated

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Death, Sudden, Cardiac

Share to DNA Mutational Analysis

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Share to High-Throughput Nucleotide Sequencing

Share to Homeobox Protein Nkx-2.5

Source

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Identifiers

PMID: 27855642
DOI: 10.1186/s12881-016-0347-6
PMCID: PMC5114776

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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