Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration
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چکیده
منابع مشابه
Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration
Heteroplasmic mitochondrial DNA (mtDNA) mutations (mutations present only in a subset of cellular mtDNA copies) arise de novo during the normal ageing process or may be maternally inherited in pedigrees with mitochondrial disease syndromes. A pathogenic mtDNA mutation causes respiratory chain deficiency only if the fraction of mutated mtDNA exceeds a certain threshold level. These mutations oft...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2008
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddn030