Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

Abstract Background Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondrial DNA (mtDNA) content, which leads to malfunction of the components o...

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Bibliographic Details
Main Authors: Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Medical Genetics
Subjects:
Mitochondrial DNA depletion syndrome
DGUOK
MPV17
Mitochondrial disorders
Online Access:http://link.springer.com/article/10.1186/s12881-019-0893-9

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http://link.springer.com/article/10.1186/s12881-019-0893-9

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