期刊
MITOCHONDRION
卷 15, 期 -, 页码 34-39出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2014.03.010
关键词
Mitochondrial DNA; Heteroplasmy; Mitochondrial diseases; Clinical diagnosis
资金
- NR (Agence Nationale pour la Recherche) (ANR MNP Mitopark) [ANR-08-MNPS-020-01]
- AFM (Association Francaise contre les Myopathies)
- AMMi (Association contre les Maladies Mitochondriales)
We describe four patients from three independent families with the m.1 644G> A in the MT-1Vgene, 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 propor: tion, 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. (C) 2014 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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