نتایج جستجو برای: a3243g
تعداد نتایج: 187 فیلتر نتایج به سال:
A9-year-old boy presented with headache, vomiting, and leftward eye gaze deviation. On examination, left homonymous hemianopia, horizontal nystagmus, and anisocoric pupils were noted. Brain CT disclosed symmetric calcification in basal ganglia (figure A). Blood examination showed lactic academia. Further MRI revealed right occipito-temporo-parietal cortical hyperintensities (figure, B and C). M...
The aim of this study was to investigate the presence of mitochondrial DNA (mtDNA) alterations and metabolic dysfunctions in patients with presbyacusis, and to discover correlations between presbyacusis and the degree of hearing loss and mitochondrial damage. Seventy patients with presbyacusis were examined, including 40 Egyptian patients and 30 Italian patients. Forty eight normal subjects wer...
A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNALeu(UUR) gene at nt 3243 ("MELAS mutation"), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 1...
Mitochondrial myopathy is an important but uncommon cause of respiratory insufficiency in adults. We report the first case of respiratory insufficiency associated with adult-onset mitochondrial myopathy seen in a Chinese adult in Hong Kong. The patient presented with peripheral oedema and shortness of breath over 2 to 3 days. There was a history of gradual progressive limb weakness over approxi...
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