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Heteroplasmy of the A3243G transition of mitochondrial tRNALeu(UUR)in a MELAS case and in a 25-week-old miscarried fetus

✍ Scribed by Elena Cardaioli; Gian Maria Fabrizi; Gaetano Salvatore Grieco; Maria Teresa Dotti; Antonio Federico


Publisher
Springer
Year
2000
Tongue
English
Weight
119 KB
Volume
247
Category
Article
ISSN
0340-5354

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MELAS is a mitochondrial encephalomyopathy characterized clinically by recurrent stroke-like episodes, seizures, sensorineural deafness, dementia, hypertrophic cardiomyopathy, and short stature. The majority of patients are heteroplasmic for a mutation (A3243G) in the tRNA leu(UUR) gene in mitochond