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Article

A juvenile case of MELAS with T3271C mitochondrial DNA mutation.

Pediatric research - 1 Aug 2005

Stenqvist Laura, Paetau Anders, Valanne Leena, Suomalainen Anu, Pihko Helena

Abstract excerpt

We present here a patient with muscle fatigue and poor growth since the age of 6 y. The diagnosis of a mitochondrial disease was based on the presence of ragged red fibers in the muscle biopsy and on a combined defect of mitochondrial DNA-encoded respiratory enzymes. Epilepsia partialis continua with stroke-like episodes appeared 2 mo before death at the age of 18 and prompted a search for mitochondrial DNA...

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Source

Identifiers

PMID: 16006433
DOI: 10.1203/01.PDR.0000169966.82325.1A

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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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