VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Clinical and molecular features of mitochondrial DNA depletion syndromes
    Spinazzola, A. ...
    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-gammaA (POLG1), deoxyguanosine kinase (DGUOK) and MPV17 (MPV17). In this work, we review the MDS-associated phenotypes and present ourown 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.
    Vir: Journal of inherited metabolic disease. - ISSN 0141-8955 (Letn. 32, št. 2, 2009, str. 143-158)
    Vrsta gradiva - članek, sestavni del
    Leto - 2009
    Jezik - angleški
    COBISS.SI-ID - 26137049
    DOI

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