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Article

Clinical heterogeneity in patients with m.4412G > A MT-TM mutation and different heteroplasmy levels.

Mitochondrion - 1 Jul 2021

Imai-Okazaki Atsuko, Yagi Nobuyasu, Nitta Kazuhiro R, Murayama Kei, Ohtake Akira, Okazaki Yasushi

Abstract excerpt

The identification of the m.4412G > A MT-TM (mt-tRNAMet) mutation was first reported in 2019. The affected individual presented with childhood-onset seizures and myopathy and bilateral basal ganglia changes, with heteroplasmy levels in muscle as high as 90%. Here, we describe another adult-onset patient with the same mutation and additional phenotypes, including hearing impairment, cerebellar ataxia, progressive...

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Identifiers

PMID: 34089906
DOI: 10.1016/j.mito.2021.06.001

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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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