𝔖 Bobbio Scriptorium
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0278 Prevalence of the MELAS A3243G mutation in a large representative western population


Book ID
119466826
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
125 KB
Volume
238
Category
Article
ISSN
0022-510X

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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

Prevalence, segregation, and phenotype o
✍ Johanna Uusimaa; Jukka S. Moilanen; Leena VainionpÀÀ; PΓ€ivi Tapanainen; PΓ€ivi Li πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 212 KB πŸ‘ 2 views

## Abstract ## Objective We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland. ## Methods Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blo