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Article

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.

American journal of medical genetics. Part A - 15 Apr 2006

Morava Eva, Rodenburg Richard J, Hol Frans, de Vries Maaike, Janssen Antoon, van den Heuvel Lambert, Nijtmans Leo, Smeitink Jan

Abstract excerpt

We retrospectively analyzed the clinical, histological, and biochemical data of 11 children, five of which carried the maternally-inherited mitochondrial T8993C and six carrying the T8993G point mutations in the ATP synthase 6 gene. The percentage of heteroplasmy was 95% or higher in muscle and in blood. All patients had an early clinical presentation with muscle hypotonia, severe extrapyramidal dysfunction and...

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Identifiers

PMID: 16532470
DOI: 10.1002/ajmg.a.31194

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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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