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Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene.

Abstract：

:We report a novel heteroplasmic mutation p.Y440C in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX) gene in a patient with late onset progressive painless weakness. Her muscle biopsy showed scattered COX-negative fibers and several small collections of inflammatory cells. The mutation was detected in the patient's muscle but not in her blood. The low mutant load in muscle could explain the patient's late onset of the myopathy and milder phenotype when compared to the previously published cases with MTCO1 mutations.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Massie R,Wang J,Chen LC,Zhang VW,Collins MP,Wong LJ,Milone M

doi

10.1016/j.jns.2012.05.003

subject

Has Abstract

pub_date

2012-08-15 00:00:00

pages

158-63

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(12)00214-6

journal_volume

319

pub_type

杂志文章

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