Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

doi:10.1136/adc.82.5.407

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Article

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Archives of disease in childhood - 1 May 2000

Koga Y, Akita Y, Takane N, Sato Y, Kato H

Abstract excerpt

AIMS: To clarify the phenotype-genotype relation associated with the A3243G mitochondrial DNA mutation. METHODS: Five unrelated probands harbouring the A3243G mutation but presenting different clinical phenotype were analysed. Probands include Leigh syndrome (LS(3243)), mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS(3243)), progressive external ophthalmoplegia (PEO(3243)),...

Topics

Adolescent
Adult
Child
Child, Preschool
DNA, Mitochondrial
Diabetes Mellitus
Female
Genotype
Humans
Infant
Leigh Disease
MELAS Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mitochondrial Encephalomyopathies

Mitochondrial Myopathies

Molecular Biology

Mutation

Source

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Identifiers

PMID: 10799437
DOI: 10.1136/adc.82.5.407
PMCID: PMC1718342

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