نتایج جستجو برای: leigh syndrome
تعداد نتایج: 623686 فیلتر نتایج به سال:
Journal:
:Brain
2014
Journal:
:Stem Cell Research
2016
Journal:
:Clinical Case Reports
2018
Journal:
:eNeurologicalSci
2020
Journal:
:Acta Ophthalmologica
2016
Journal:
:EMBO Molecular Medicine
2020
Journal:
:Mitochondrion
2014
Matthew J Fraidakis
Claude Jardel
Stéphane Allouche
Isabelle Nelson
Karine Auré
Abdelhamid Slama
Isabelle Lemière
Jean Philippe Thenint
Jean Baptiste Hamon
Fabien Zagnoli
Delphine Heron
Frédéric Sedel
Anne Lombès
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 ...
Journal:
:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
2003
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