MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

doi:10.1136/jnnp.65.4.512

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Article

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 1998

Hanna M G, Nelson I P, Morgan-Hughes J A, Wood N W

Abstract excerpt

OBJECTIVES: To define the molecular genetic basis of the MELAS phenotype in five patients without any known mutation of mitochondrial DNA. METHODS: Systematic automated mitochondrial DNA sequencing of all mitochondrial transfer RNA and cytochrome c oxidase genes was undertaken in five patients wh...

Topics

Adult
DNA Primers
DNA, Mitochondrial
Female
Humans
MELAS Syndrome
Male
Middle Aged
Phenotype
Phenylalanine
Point Mutation
Polymerase Chain Reaction
RNA, Transfer, Amino Acid-Specific

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