| Autor: |
Jean-Francois MJ; Clinical Neuroscience Centre, St Vincent's Hospital, Fitzroy, Victoria 3065, Australia., Collins S, Kotsimbos N, Dennett X, Byrne E |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 1997 Apr; Vol. 4 (2), pp. 163-8. |
| DOI: |
10.1016/s0967-5868(97)90067-9 |
| Abstrakt: |
Twenty-one patients with long standing unexplained ptosis (3), chronic progressive external ophthalmoplegia (CPEO, 16) or Kearns-Sayre syndrome (KSS, 2) were studied for the presence of mitochondrial DNA (mtDNA) deletions and the major disease-associated mtDNA point mutations with the aim of correlating mitochondrial genetic abnormalities with pathogenesis in these patients. Only 52% were found to have a deletion; of these, 82% harboured the 'common deletion'. Two of 2 KSS patients and 9 of 16 CPEO patients were deletion positive. None of the 3 patients with bilateral ptosis only had a deletion. Of those patients with ragged red fibres (RRF) on histology, 69% had a deletion. No disease associated mtDNA point mutation was observed with the exception of the nucleotide (nt) 11084 A-G mutation associated with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) in a patient also harbouring the common deletion. The role of deletions in CPEO patients is discussed. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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