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Article

Delineating the phenotype of PNPLA8-related mitochondriopathies.

Clinical genetics - 1 Jan 2024

Abdel-Hamid Mohamed S, Abdel-Salam Ghada M H, Abdel-Ghafar Sherif F, Zaki Maha S

Abstract excerpt

Pathogenic variants in PNPLA8 have been described either with congenital onset displaying congenital microcephaly, early onset epileptic encephalopathy and early lethality or childhood neurodegeneration with progressive microcephaly. Moreover, a phenotype comprising adulthood onset cerebellar ataxia and peripheral neuropathy was also reported. To our knowledge, only six patients with biallelic variants in PNPLA8...

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Identifiers

PMID: 37671596
DOI: 10.1111/cge.14421

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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