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Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

Abstract : We describe four patients from three independent families with the m.1644G>A in the MT-TV gene, previously reported without demonstration of its deleterious impact. Very high mutation proportion co-segregated with cytochrome oxidase defect in single muscle fibers and respiratory defect in cybrids as shown by spectrophotometric assays and polarography. The mutation appeared to have a very steep threshold effect with asymptomatic life up to 70% mutation proportion, progressive encephalopathy above 80% and severe Leigh-like syndrome above 95% mutation. One patient did not fit within that frame but presented with characteristics suggesting the presence of an additional disease.
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https://www.hal.inserm.fr/inserm-01067959
Contributor : Mireille Bos <>
Submitted on : Wednesday, September 24, 2014 - 2:22:01 PM
Last modification on : Wednesday, September 16, 2020 - 5:09:16 PM
Long-term archiving on: : Friday, April 14, 2017 - 2:03:18 PM

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Matthew Fraidakis, Claude Jardel, Stéphane Allouche, Isabelle Nelson, Karine Auré, et al.. Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.. Mitochondrion, Elsevier, 2014, 15, pp.34-9. ⟨10.1016/j.mito.2014.03.010⟩. ⟨inserm-01067959⟩

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