High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.

doi:10.1212/wnl.45.4.762

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Article

High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.

Neurology - 1 Apr 1995

Manfredi G, Servidei S, Bonilla E, Shanske S, Schon E A, DiMauro S, Moraes C T

Abstract excerpt

Other investigators reported the presence of low levels of a 260-bp heteroplasmic duplication of mitochondrial DNA in patients with mitochondrial DNA deletions and their asymptomatic mothers. In this study, we were not able to detect this polymorphism in 30 patients with mitochondrial DNA deletio...

Topics

Base Sequence
DNA, Mitochondrial
Humans
Male
Middle Aged
Mitochondria, Muscle
Mitochondrial Myopathies
Molecular Sequence Data
Phenotype
Repetitive Sequences, Nucleic Acid

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