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Exercise intolerance due to cytochrome b mutation
Author(s) -
Massie Rami,
Wong LeeJun C.,
Milone Margherita
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21649
Subject(s) - exercise intolerance , lactic acidosis , heteroplasmy , cytochrome c oxidase , mutation , cytochrome b , medicine , mitochondrial myopathy , cytochrome , endocrinology , genetics , mitochondrial dna , biology , biochemistry , gene , mitochondrion , enzyme , heart failure
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. Muscle Nerve, 2010