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Clinical and molecular features of mitochondrial DNA depletion syndromesSpinazzola, 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 delLeto - 2009Jezik - angleškiCOBISS.SI-ID - 26137049
Avtor
Spinazzola, A. |
Invernizzi, F. |
Carrara, F. |
Lamantea, E. |
Donati, A. |
DiRocco, M. |
Giordano, I. |
Meznarič, Marija |
Baruffini, E. |
Ferrero, I. |
Zeviani, M.
Teme
Acidosis, Lactic |
Etiology |
Age Of Onset |
Brain |
Pathology |
Child |
Child, Preschool |
Cohort Studies |
Dna, Mitochondrial |
Genetics |
Electroencephalography |
Electromyography |
Infant |
Infant, Newborn |
Liver |
Pathology |
Magnetic Resonance Imaging |
Mitochondrial Encephalomyopathies |
Genetics |
Pathology |
Mitochondrial Myopathies |
Genetics |
Pathology |
Muscle, Skeletal |
Pathology |
Mutation |
Physiology |
Thymidine Kinase |
Genetics |
Mišica skeletna |
Starost pri obolevnosti |
Otrok |
Elektromiografija |
Jetra |
Otrok predšolski |
DNA mitohondrijska |
Novorojenček |
Mitohondrijske miopatije |
Dojenček |
Acidoza laktična |
Možgani |
Kohortne študije |
Elektroencefalografija |
Magnetna resonanca |
Mitohondrijske encefalomiopatije |
Mutacija |
Timidinska kinaza
Vnos na polico
Trajna povezava
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Faktor vpliva
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Spinazzola, A. | |
Invernizzi, F. | |
Carrara, F. | |
Lamantea, E. | |
Donati, A. | |
DiRocco, M. | |
Giordano, I. | |
Meznarič, Marija | 04905 |
Baruffini, E. | |
Ferrero, I. | |
Zeviani, M. |
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