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Article

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.

Brain & development - 1 Feb 2014

Goto Masahide, Komaki Hirofumi, Saito Takashi, Saito Yoshiaki, Nakagawa Eiji, Sugai Kenji, Sasaki Masayuki, Nishino Ichizo, Goto Yu-Ichi

Abstract excerpt

The m.3302A>G mutation in the mitochondrial tRNA(Leu(UUR)) gene has been identified in only 12 patients from 6 families, all manifesting adult-onset slowly progressive myopathy with minor central nervous system involvement. An 11-year-old boy presented with progressive proximal-dominant muscle weakness from age 7years. At age 10, he developed recurrent stroke-like episodes. Mitochondrial myopathy, encephalopathy,...

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Source

Identifiers

PMID: 23582502
DOI: 10.1016/j.braindev.2013.03.001

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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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