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Article

Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.

American journal of medical genetics. Part A - 1 Jul 2024

Gerard Amanda, Mizerik Elizabeth, Mohila Carrie A, AlAwami Sarah, Hunter Jill V, Kearney Debra L, Lalani Seema R, Scaglia Fernando

Abstract excerpt

PARS2 encodes an aminoacyl-tRNA synthetase that catalyzes the ligation of proline to mitochondrial prolyl-tRNA molecules. Diseases associated with PARS2 primarily affect the central nervous system, causing early infantile developmental epileptic encephalopathies (EIDEE; DEE75; MIM #618437) with infantile-onset neurodegeneration. Dilated cardiomyopathy has also been reported in the affected individuals. About 10...

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Identifiers

PMID: 38469956
DOI: 10.1002/ajmg.a.63589

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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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