Exercise intolerance due to cytochrome b mutation

Rami Massie, Lee Jun C Wong, Margherita Milone

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)136-140
Number of pages5
JournalMuscle and Nerve
Volume42
Issue number1
DOIs
StatePublished - Jul 2010

Fingerprint

Cytochromes b
Exercise
Mutation
Slow-Twitch Muscle Fibers
Mitochondrial Diseases
Lactic Acidosis
Electron Transport Complex III
Electron Transport Complex IV
Oxidoreductases
Milk
Genes

Keywords

  • Cytochrome b
  • Exercise intolerance
  • Mitochondrial myopathy
  • Mutation
  • Ragged-red fibers

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

Cite this

Exercise intolerance due to cytochrome b mutation. / Massie, Rami; Wong, Lee Jun C; Milone, Margherita.

In: Muscle and Nerve, Vol. 42, No. 1, 07.2010, p. 136-140.

Research output: Contribution to journalArticle

Massie, Rami ; Wong, Lee Jun C ; Milone, Margherita. / Exercise intolerance due to cytochrome b mutation. In: Muscle and Nerve. 2010 ; Vol. 42, No. 1. pp. 136-140.
@article{2909419707814eba9c1360d7d67be9d2,
title = "Exercise intolerance due to cytochrome b mutation",
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.",
keywords = "Cytochrome b, Exercise intolerance, Mitochondrial myopathy, Mutation, Ragged-red fibers",
author = "Rami Massie and Wong, {Lee Jun C} and Margherita Milone",
year = "2010",
month = "7",
doi = "10.1002/mus.21649",
language = "English (US)",
volume = "42",
pages = "136--140",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "1",

}

TY - JOUR

T1 - Exercise intolerance due to cytochrome b mutation

AU - Massie, Rami

AU - Wong, Lee Jun C

AU - Milone, Margherita

PY - 2010/7

Y1 - 2010/7

N2 - 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.

AB - 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.

KW - Cytochrome b

KW - Exercise intolerance

KW - Mitochondrial myopathy

KW - Mutation

KW - Ragged-red fibers

UR - http://www.scopus.com/inward/record.url?scp=77954102769&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77954102769&partnerID=8YFLogxK

U2 - 10.1002/mus.21649

DO - 10.1002/mus.21649

M3 - Article

C2 - 20544923

AN - SCOPUS:77954102769

VL - 42

SP - 136

EP - 140

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 1

ER -