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Article

MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).

Neuropediatrics - 1 Aug 2011

Hahn A, Schänzer A, Neubauer B A, Gizewski E, Ahting U, Rolinski B

Abstract excerpt

Nearly all patients affected by myoclonic epilepsy with ragged-red fibres (MERRF) harbour a mutation in the mitochondrial transfer RNALys gene. We report on an 8-year-old girl with clinical and diagnostic features of MERRF. After excluding one of the common mutations associated with MERRF, a complete sequence analysis of the mitochondrial genome revealed an m.4284 G>A mutation in the mitochondrial transfer RNAIle...

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Source

Identifiers

PMID: 21766266
DOI: 10.1055/s-0031-1283167

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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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