Early-onset fatal encephalomyopathy associated with severe mtDNA depletion
| العنوان: | Early-onset fatal encephalomyopathy associated with severe mtDNA depletion |
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| المؤلفون: | A. Saunières, J. Camboulives, V. Paquis-Flucklinger, M. F. Monfort, Claude Desnuelle, B. Chabrol, H. Giudicelli, F. Pellissier |
| المصدر: | European Journal of Pediatrics. 154:557-562 |
| بيانات النشر: | Springer Science and Business Media LLC, 1995. |
| سنة النشر: | 1995 |
| مصطلحات موضوعية: | Mitochondrial DNA, medicine.medical_specialty, Dizygotic twin, Respiratory chain, Cytochrome-c Oxidase Deficiency, DNA, Mitochondrial, Fatal Outcome, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, Internal medicine, Diseases in Twins, Twins, Dizygotic, Humans, Medicine, Cytochrome c oxidase, Muscle, Skeletal, Muscle biopsy, Respiratory distress, medicine.diagnostic_test, biology, business.industry, Brain, Infant, medicine.disease, Microscopy, Electron, Endocrinology, Biochemistry, Lactic acidosis, Pediatrics, Perinatology and Child Health, biology.protein, Muscle Hypotonia, Acidosis, Lactic, Female, business |
| الوصف: | We studied a 3-month-old girl who was admitted to hospital because of respiratory distress. The clinical course was characterized by a rapidly progressive generalized hypotonia with lactic acidosis and she died at 4 months of age. A muscle biopsy showed few ragged-red fibres and lack of histochemical cytochrome c oxidase reaction in all fibres. Enzyme activities of the respiratory chain complexes containing subunits encoded by the mitochondrial DNA (mtDNA) were markedly decreased. A quantitative Southern blot analysis revealed 99% depletion of mtDNA in muscle and normal amounts in blood. There was no family history and the dizygotic twin sister of the patient was no symptomatic.This new case confirms the rapidly fatal evolution associated with severe depletion of muscle mtDNA. |
| تدمد: | 1432-1076 0340-6199 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a78bcec5d01f2314e1560f2a1c7eeb03Test https://doi.org/10.1007/bf02074834Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....a78bcec5d01f2314e1560f2a1c7eeb03 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14321076 03406199 |
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