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01-04-2009 | SSIEM Symposium 2008

Clinical and molecular features of mitochondrial DNA depletion syndromes

Authors: A. Spinazzola, F. Invernizzi, F. Carrara, E. Lamantea, A. Donati, M. DiRocco, I. Giordano, M. Meznaric-Petrusa, E. Baruffini, I. Ferrero, M. Zeviani

Published in: Journal of Inherited Metabolic Disease | Issue 2/2009

Summary

Mitochondrial DNA depletion syndromes (MDSs) form a group of autosomal recessive disorders characterized by profoundly decreased mitochondrial DNA copy numbers in affected tissues. Three main clinical presentations are known: myopathic, encephalomyopathic and hepatocerebral. The first is associated with mutations in thymidine kinase 2 (TK2) and p53-induced ribonucleotide reductase B subunit (RRM2B); the second with mutations in succinate synthase A (SUCLA2) and B (SUCLG1); the third with mutations in Twinkle (PEO1), pol-γA (POLG1), deoxyguanosine kinase (DGUOK) and MPV17 (MPV17). In this work, we review the MDS-associated phenotypes and present our own experience of 32 MDS patients, with the aim of defining the mutation frequency of the known genes, the clinical spectrum of the diseases, and the genotype–phenotype correlations. Five of our patients carried previously unreported mutations in one of the eight MDS genes.

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Title: Clinical and molecular features of mitochondrial DNA depletion syndromes
Authors: A. Spinazzola
F. Invernizzi
F. Carrara
E. Lamantea
A. Donati
M. DiRocco
I. Giordano
M. Meznaric-Petrusa
E. Baruffini
I. Ferrero
M. Zeviani
Publication date: 01-04-2009
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 2/2009
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-008-1038-z

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