The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.
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چکیده
منابع مشابه
The A to G transition at nt 3243 of the mitochondrial tRNALeu ( uuR ) may cause an MERRF syndrome Gian
Received 31 October 1995 and in final revised form 19 February 1996 Accepted 23 February 1996 Abstract Objective-To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. Methods-Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a ped...
متن کاملThe A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.
OBJECTIVE To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. METHODS Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a pedigree harbouring the heteroplasmic A to G transition at nucleotide 3243 of the mitochondrial tRNALeu(...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1996
ISSN: 0022-3050
DOI: 10.1136/jnnp.61.1.47