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Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").
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Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology. 1993 Jun; 43(6):1200-6.
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PubMed
subject areas
Adult
Base Sequence
Brain Diseases, Metabolic
Citrate (si)-Synthase
DNA, Mitochondrial
Epilepsies, Myoclonic
Female
Humans
Leigh Disease
Male
MERRF Syndrome
Middle Aged
Mitochondrial Myopathies
Molecular Sequence Data
Muscles
Ophthalmoplegia, Chronic Progressive External
Pedigree
Phenotype
Point Mutation
authors with profiles
Gerard A. Silvestri