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Article

Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

Molecular diagnosis & therapy - 1 Aug 2017

Poulton Joanna, Finsterer Josef, Yu-Wai-Man Patrick

Abstract excerpt

The aim of this review was to provide an evidence-based approach to frequently asked questions relating to the risk of transmitting a maternally inherited mitochondrial disorder (MID). We do not address disorders linked with disturbed mitochondrial DNA (mtDNA) maintenance, causing mtDNA depletion or multiple mtDNA deletions, as these are autosomally inherited. The review addresses questions regarding prognosis,...

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PMID: 28536827
DOI: 10.1007/s40291-017-0279-7

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