دورية أكاديمية
Mitochondrial diseases in childhood
| العنوان: | Mitochondrial diseases in childhood |
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| المؤلفون: | Ardissone A., Lamantea E., Invernizzi F., Zeviani M., Genitrini S., Moroni I., Uziel G. |
| المساهمون: | Ardissone, A., Lamantea, E., Invernizzi, F., Zeviani, M., Genitrini, S., Moroni, I., Uziel, G. |
| بيانات النشر: | Bentham Science Publishers B.V. |
| سنة النشر: | 2014 |
| المجموعة: | Padua Research Archive (IRIS - Università degli Studi di Padova) |
| مصطلحات موضوعية: | Encephalomyocardiopathy, Leigh disease, Leukoencephalopathy, Mitochondrial depletions syndrome, Mitochondrial disorder in childhood, Respiratory chain defects |
| الوصف: | Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing. Taken as a whole they are among the most frequent genetic diseases in humans at any age. The respiratory chain is the only metabolic pathway under double genome control and molecular genetics of these disorders is complicated by the existence of strict interactions between mitochondrial DNA and nuclear DNA. In childhood and infancy, clinical presentation differs from mitochondrial disorders with adult onset. The phenotypes are much more severe, often involving brain, frequently presenting as multisystemic disorders and seldom as isolated myopathy. Mutations in nDNA are more frequent than in adulthood. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/25323866; info:eu-repo/semantics/altIdentifier/wos/WOS:000344929400014; volume:14; issue:8; firstpage:1069; lastpage:1078; numberofpages:10; journal:CURRENT MOLECULAR MEDICINE; http://hdl.handle.net/11577/3354209Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84911483215 |
| DOI: | 10.2174/1566524014666141010155317 |
| الإتاحة: | https://doi.org/10.2174/1566524014666141010155317Test http://hdl.handle.net/11577/3354209Test |
| رقم الانضمام: | edsbas.B85DBFFC |
| قاعدة البيانات: | BASE |
| DOI: | 10.2174/1566524014666141010155317 |
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