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Article

Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness.

Biochimica et biophysica acta - 12 Dec 2002

Perucca-Lostanlen D, Taylor R W, Narbonne H, Mousson de Camaret B, Hayes C M, Saunieres A, Paquis-Flucklinger V, Turnbull D M, Vialettes B, Desnuelle C

Abstract excerpt

A heteroplasmic T to C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNA(Glu)) gene has previously been associated with maternally inherited diabetes and deafness (MIDD). To investigate the pathogenic mechanism of the T14709C mutation, we have constructed transmitochondrial cell lines by transferring fibroblasts mitochondria from a patient with the mutation into human cells...

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PMID: 12393175
DOI: 10.1016/s0925-4439(02)00167-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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