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Article

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

Human molecular genetics - 15 Sept 2017

Cao Siqi, Smith Laura L, Padilla-Lopez Sergio R, Guida Brandon S, Blume Elizabeth, Shi Jiahai, Morton Sarah U, Brownstein Catherine A, Beggs Alan H, Kruer Michael C, Agrawal Pankaj B

Abstract excerpt

Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development and function is unclear. There have been several reports linking de novo dominant EEF1A2 mutations...

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Identifiers

PMID: 28911200
DOI: 10.1093/hmg/ddx239
PMCID: PMC5886049

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Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.PMID 28911200Read ↗

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