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Article

Leigh syndrome associated with a novel mutation in the COX15 gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jun 2016

Miryounesi Mohammad, Fardaei Majid, Tabei Seyed Mohammadbagher, Ghafouri-Fard Soudeh

Abstract excerpt

Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with a diverse range of symptoms, such as psychomotor delay or regression, weakness, hypotonia, truncal ataxia, intention tremor as well as lactic acidosis in the blood, cerebrospinal fluid or urine. Both nuclear gene defects and mutations of the mitochondrial genome have been detected in these patients. Here we report a 7-year-old girl with...

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Identifiers

PMID: 26959537
DOI: 10.1515/jpem-2015-0396

Genes

COX15

Variants

Provenance

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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Leigh syndrome associated with a novel mutation in the COX15 gene.PMID 26959537Read ↗

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