Avtor/Urednik		Spinazzola, A; Invernizzi, F; Carrara, F; Lamantea, E; Donati, A; Dirocco, M; Giordano, I; Meznaric-Petrusa, M; Baruffini, E; Ferrero, I; Zeviani, M
Naslov		Clinical and molecular features of mitochondrial DNA depletion syndromes
Tip		članek
Vir		J Inherit Metab Dis
Vol. in št.		Letnik 32, št. 2
Leto izdaje		2009
Obseg		str. 143-58
Jezik		eng
Abstrakt		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 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.
Deskriptorji		ACIDOSIS, LACTIC AGE OF ONSET BRAIN CHILD CHILD, PRESCHOOL COHORT STUDIES DNA, MITOCHONDRIAL ELECTROENCEPHALOGRAPHY ELECTROMYOGRAPHY INFANT INFANT, NEWBORN LIVER MAGNETIC RESONANCE IMAGING MITOCHONDRIAL ENCEPHALOMYOPATHIES MITOCHONDRIAL MYOPATHIES MUSCLE, SKELETAL MUTATION THYMIDINE KINASE