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Article

Cytochrome <i>c</i> Oxidase subunit I microdeletion in a patient with motor neuron disease

1 Jan 1998

Abstract excerpt

An out-of-frame mutation of the mitochondrial DNA-encoded subunit I of cytochrome c oxidase (COX) was discovered during investigation of a severe isolated muscle COX deficiency in a patient with motor neuron-like degeneration. The mutation is a heteroplasmic 5-bp microdeletion located in the 5' end of the COI gene, leading to premature termination of the corresponding translation product. Western blot analysis,...

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Identifiers

PMID: 9450776
DOI: 10.1002/ana.410430119

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