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Article

Novel AARS2 gene mutation producing leukodystrophy: a case report.

Journal of human genetics - 1 Feb 2017

Szpisjak Laszlo, Zsindely Nora, Engelhardt Jozsef I, Vecsei Laszlo, Kovacs Gabor G, Klivenyi Peter

Abstract excerpt

AARS2 gene (NM_020745.3) mutations result in two different phenotypic diseases: infantile mitochondrial cardiomyopathy and late-onset leukoencephalopathy. The patient's first symptoms appeared at the age of 18 years with behavioral changes and psychiatric problems. Some years later, extrapyramidal symptoms, cognitive impairment, nystagmus, dysarthria and pyramidal symptoms also developed. The brain magnetic...

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Source

Identifiers

PMID: 27734837
DOI: 10.1038/jhg.2016.126

Genes

AARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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