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• W2027920416 abstract "Over the last decade there have been major advances in our understanding of the genetic basis of mitochondrial disease, enabling genetic counseling for patients with autosomal dominant and autosomal recessive disorders. Genetic counseling for patients with mitochondrial DNA (mtDNA) mutations is less well established. Approximately one-third of adults with a mtDNA disorder are sporadic cases, usually due to a single deletion of mtDNA. About two-thirds of adults with mtDNA disease harbor a maternally transmitted point mutation. The recurrence risks are well documented for homoplasmic mtDNA mutations causing Leber hereditary optic neuropathy, but the situation is less clear for families with heteroplasmic mtDNA disorders. Two large studies have shown that for some heteroplasmic point mutations there appears to be a relationship between the percentage level of mutant mtDNA in a mother's blood and her risk of having clinically affected offspring. The situation is less clear for other point mutations, some of which may cause sporadic disease. Recent evidence has cast light on the general principles behind the transmission of heteroplasmic mtDNA point mutations, which may be important for genetic counseling in the future." @default.
• W2027920416 created "2016-06-24" @default.
• W2027920416 creator A5013583757 @default.
• W2027920416 date "2002-11-01" @default.
• W2027920416 modified "2023-10-09" @default.
• W2027920416 title "Inheritance of mitochondrial disorders" @default.
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• W2027920416 doi "https://doi.org/10.1016/s1567-7249(02)00046-6" @default.
• W2027920416 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16120317" @default.
• W2027920416 hasPublicationYear "2002" @default.
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