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.
Keywords
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Article info
Publication history
Published online: May 28, 2012
Accepted:
May 2,
2012
Received in revised form:
April 28,
2012
Received:
January 21,
2012
Identification
Copyright
© 2012 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
