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Article

A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.

Archives of neurology - 1 Jul 2001

Seneca S, Verhelst H, De Meirleir L, Meire F, Ceuterick-De Groote C, Lissens W, Van Coster R

Abstract excerpt

OBJECTIVE: To report on the molecular identification of a novel heteroplasmic G-to-A transition at mitochondrial DNA position 3249 in transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. PATIENT AND METHODS: A 34-year-old patient had been suffering for more than 10 years from progressive visual failure, neurosensorial hearing loss, exercise intolerance, muscle weakness,...

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Source

Identifiers

PMID: 11448301
DOI: 10.1001/archneur.58.7.1113

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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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