Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
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چکیده
منابع مشابه
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations of mitochondrial DNA (mtDNA): A3243G or A8344G. Individuals who harbour these mutations carry both mutant and wild-type alleles within each cell (heteroplasmy). Despite clear evidence of a direct relationship between the level of mutation and mitochondrial respiratory chain function in vitro, it has...
متن کاملMELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.
The majority of pathogenic mitochondrial DNA (mtDNA) mutations are heteroplasmic, with both mutant and wild-type alleles present within the same individual. MtDNA is transmitted only from females to their offspring but a single female can bear offspring who harbour different levels of mutant mtDNA and have a variable phenotype. In single families, this complex genetic and phenotypic variability...
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ژورنال
عنوان ژورنال: Brain
سال: 1997
ISSN: 1460-2156
DOI: 10.1093/brain/120.10.1713