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Article

Two novel mitochondrial tRNA mutations, A7495G (tRNASer(UCN)) and C5577T (tRNATrp), are associated with seizures and cardiac dysfunction.

Mitochondrion - 1 Nov 2016

Djordjevic Djurdja, Brady Lauren, Bai Renkui, Tarnopolsky Mark A

Abstract excerpt

We describe here two novel mitochondrial mutations associated with a complex mitochondrial encephalopathy. An A to G transition at position 7495 (MT-TS1 (MT-tRNSer(UCN))) was identified at 83% heteroplasmy in the muscle of a four year old female with ptosis, hypotonia, seizures, and dilated cardiomyopathy (Case 1). A homoplasmic C to T transition at position 5577 (MT-TW (MT-tRNATrp)) was found in a twenty-four...

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Source

Identifiers

PMID: 27693765
DOI: 10.1016/j.mito.2016.09.002

Genes

UCN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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