Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance

Neurology. 2005 Mar 22;64(6):1091-2. doi: 10.1212/01.WNL.0000154471.33156.55.

Authors

T Pulkes¹, D Liolitsa, A J Wills, I Hargreaves, S Heales, M G Hanna

Affiliation

¹ Department of Molecular Neuroscience, Institute of Neurology, London, UK.

PMID: 15781840
DOI: 10.1212/01.WNL.0000154471.33156.55

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Codon, Nonsense / genetics*
DNA Mutational Analysis
DNA, Mitochondrial / genetics*
Electron Transport Complex I / deficiency
Electron Transport Complex I / genetics
Energy Metabolism / genetics
Exercise Tolerance / genetics*
Female
Genetic Predisposition to Disease / genetics
Humans
Middle Aged
Mitochondria / genetics
Mitochondria / metabolism
Muscle Fibers, Skeletal / metabolism
Muscle Fibers, Skeletal / pathology
Muscle Weakness / genetics*
Muscle Weakness / metabolism
Muscle Weakness / physiopathology
Muscle, Skeletal / metabolism*
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Muscular Diseases / genetics*
Muscular Diseases / metabolism
Muscular Diseases / physiopathology
NADH Dehydrogenase / deficiency
NADH Dehydrogenase / genetics
Ophthalmoplegia / genetics
Ophthalmoplegia / metabolism
Ophthalmoplegia / physiopathology

Substances

Codon, Nonsense
DNA, Mitochondrial
NADH Dehydrogenase
Electron Transport Complex I