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Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000006320
Abstract: Biallelic mutations in the elaC ribonuclease Z 2 (ELAC2) gene cause a rare mitochondrial disease, the main features of which are hypertrophic cardiomyopathy, delayed psychomotor development, and usually death during childhood.1 Only 20 families have…
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Keywords:
psychosis acanthocytosis;
prolonged survival;
acanthocytosis prolonged;
chorea psychosis ... See more keywords