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Article

MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G).

BMJ case reports - 11 Sept 2017

Toyoshima Yuka, Tanaka Yuji, Satomi Kazuo

Abstract excerpt

We describe the case of a 40-year-old-man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, with cardiomyopathy and severe heart failure. He had a mitochondrial transfer RNA (tRNA) mutation (m.1616A>G) of the (tRNA-Val) gene, and it was not found in MELAS syndrome ever before. The presence of this newly observed tRNA-Val mutation (m.1616A>G) may induce...

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Source

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Identifiers

PMID: 28893805
DOI: 10.1136/bcr-2017-220934
PMCID: PMC5623297

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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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