Exercise intolerance due to cytochrome b mutation

Muscle & Nerve
Rami MassieMargherita Milone

Abstract

Cytochrome b mutations are rare causes of exercise intolerance. We report an 18-year-old man with exercise intolerance since childhood, resting lactic acidosis, cytochrome c oxidase (COX)-positive ragged-red fibers, and isolated muscle complex III deficiency due to a heteroplasmic m.14849T>C mutation in cytochrome b. We review previously described patients carrying mutations in the same gene. COX-positive ragged-red fibers together with exercise intolerance and lactic acidemia provide a clue for the diagnosis of this rare mitochondrial disorder.

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Citations

Aug 16, 2014·American Journal of Medical Genetics. Part a·Michelangelo MancusoUbaldo Bonuccelli
Apr 17, 2015·Journal of Clinical Pathology·Simon Edward OlpinRosaline Quinlivan
Aug 6, 2013·Molecular Genetics and Metabolism·Margherita Milone, Lee-Jun Wong
Jan 11, 2017·Molecular Genetics and Metabolism Reports·Alice ZanoliniCostanza Lamperti
Aug 4, 2016·Journal of the American Animal Hospital Association·Susan TaylorG Diane Shelton
Sep 30, 2016·Journal of the American Animal Hospital Association·Susan TaylorJames R Mickelson
Jan 29, 2021·Pediatric Research·Junsung ParkWon Kyoung Jhang

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