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Article

Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.

Metabolic brain disease - 1 Aug 2015

Schinwelski M, Kierdaszuk B, Dulski J, Tońska K, Kodroń A, Sitek E J, Bartnik E, Kamińska A, Kwieciński H, Sławek J

Abstract excerpt

Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient's clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam.

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Identifiers

PMID: 25550170
DOI: 10.1007/s11011-014-9645-x
PMCID: PMC4491363

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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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