Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.

doi:10.1007/BF00867418

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Article

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.

Journal of neurology - 1 Aug 1995

Fabrizi G M, Tiranti V, Mariotti C, Guazzi G C, Malandrini A, DiDonato S, Zeviani M

Abstract excerpt

A heteroplasmic insertion of a 9-bp tandem repeat element was detected in the mitochondrial DNA of the maternal members of a large family. The mutation was contained within the non-coding region between the genes specifying subunit II of cytochrome c oxidase and tR-NA(Lys). The proband and most o...

Topics

Aged
Base Sequence
DNA, Mitochondrial
Genetic Linkage
Genome, Human
Humans
Male
Mitochondrial Encephalomyopathies
Molecular Sequence Data
Pedigree
Phenotype
Point Mutation
Repetitive Sequences, Nucleic Acid
X Chromosome

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