Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome
| العنوان: | Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome |
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| المؤلفون: | Eva Morava, Rodenburg, R., Hol, F., Linda De Meirleir, Sara Seneca, Busch, R., Den Heuvel, L., Jan Smeitink |
| المساهمون: | Department of Embryology and Genetics, Pediatrics, Vrije Universiteit Brussel |
| المصدر: | American Journal of Medical Genetics. Part A, 140, 7, pp. 752-6 Vrije Universiteit Brussel American Journal of Medical Genetics. Part A, 140, 752-6 |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial medicine [IGMD 8], Energy and redox metabolism [NCMLS 4], Genetic defects of metabolism [UMCN 5.1], Translational research [ONCOL 3], Glycostation disorders [IGMD 4], Brooks-Wisniewski-Brown syndrome, Cellular energy metabolism [UMCN 5.3] |
| الوصف: | Contains fulltext : 50522.pdf (Publisher’s version ) (Closed access) Brooks, Wisniewski, and Brown described a familial presentation of severe developmental retardation, speech delay, static encephalopathy with atrophic hydrocephalus, microcephaly, progressive spastic diplegia, a characteristic facial appearance, optic atrophy, and growth retardation associated with hypoplastic corpus callosum in one of the patients. The authors postulated a distinct X-linked mental retardation syndrome. Later on a similar phenotype was observed in three male siblings with an early lethal outcome. Here we describe three patients with several overlapping features and a progressive neurological picture presenting with a significantly compromised mitochondrial oxidative phosphorylation measured in a fresh muscle biopsy. Neurological deterioration is a commonly observed feature in mitochondrial disorders. Based on the unique combination of the clinical symptoms, we suggest that our patients have the Brooks-Wisniewski-Brown syndrome. |
| وصف الملف: | application/pdf |
| تدمد: | 1552-4825 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bd45ce198a5cda6750f8f2d3d5787219Test https://hdl.handle.net/2066/50522Test |
| حقوق: | RESTRICTED |
| رقم الانضمام: | edsair.dedup.wf.001..bd45ce198a5cda6750f8f2d3d5787219 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524825 |
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