An 80-year-old Mitochondrial Disease Patient with A3243G tRNALeu(UUR) Gene Presenting Cardiac Dysfunction as the Main Symptom.
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چکیده
منابع مشابه
The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
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...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2001
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.40.405