116th ENMC international workshop: The treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 13, Issue 9, 2003, Pages 757-764

  Chinnery, P F ^a   Bindoff, L A ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF BERGEN   (Norway)

Author keywords

Metabolic disease; Mitochondrial disorders; Mitochondrial encephalomyopathy; Respiratory chain

Indexed keywords

ALPHA TOCOPHEROL; BICARBONATE; CARBAMAZEPINE; CLONAZEPAM; CORTICOSTEROID; DICHLOROACETIC ACID; ETIRACETAM; LAMOTRIGINE; NICOTINAMIDE; PHENOBARBITAL; PHENYTOIN; RIBOFLAVIN; TOPIRAMATE; UBIDECARENONE; VALPROIC ACID;

ARTICLE; BRAIN DISEASE; CLINICAL TRIAL; DIABETIC NEPHROPATHY; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPSY; EXERCISE TEST; FATIGUE; GASTROINTESTINAL DISEASE; HEARING IMPAIRMENT; HEART DISEASE; HEART TRANSPLANTATION; HETEROPLASMY; HUMAN; METABOLITE; MUSCLE WEAKNESS; MYOCLONUS; NEAR INFRARED SPECTROSCOPY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPHTHALMOPLEGIA; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PTOSIS; SEIZURE, EPILEPSY AND CONVULSION;

EID: 0141991065     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00097-X     Document Type: Article

References (24)

1. Darin N., Oldfors A., Moslemi A.R., Holme E., Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities. Ann Neurol. 49:2001;377-383.
2. Skladal D., Bernier F.P., Halliday J.L., Thorburn D.R. Birth prevalence of mitochondrial respiratory chain defects in children. J Inherit Metab Dis. 23:2000;138.
3. Chinnery P.F., Johnson M.A., Wardell T.M., et al. Epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol. 48:2000;188-193.
4. Chinnery P.F., Turnbull D.M. The epidemiology and treatment of mitochondrial disease. Am J Med Genet. 106:2001;94-101.
5. Majamaa K., Moilanen J.S., Uimonen S., et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes: prevalence of the mutation in an adult population. Am J Hum Genet. 63:1998;447-454.
6. Morris A.A., Jackson M.J., Bindoff L.A., Turnbull D.M. The investigation of mitochondrial respiratory chain disease. J R Soc Med. 88:1995;217P-222P.
7. Olsen D.B., Langkilde A., Vissing J. Muscle fat infiltration is a common finding in patients with a mitochondrial myopathy. J Neurol Sci. 187:2001;S1113.
8. Chinnery P., Howell N., Lightowlers R., Turnbull D. Molecular pathology of MELAS and MERRF: the relationship between mutation load and clinical phenotype. Brain. 120:1997;1713-1721.
9. White S.L., Collins V.A., Woolfe R., et al. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet. 65:1999;474-482.
10. Taivassalo T., Jensen T.D., Kennaway N., DiMauro S., Vissing J., Haller R.G. The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. Brain. 126:2003;413-423.
11. Taivassalo T., Abbott A., Wyrick P., Haller R.G. Venous oxygen levels during aerobic forearm exercise: an index of impaired oxidative metabolism in mitochondrial myopathy. Ann Neurol. 51:2002;38-44.
12. Taivassalo T., Shoubridge E.A., Chen J., et al. Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. Ann Neurol. 50:2001;133-141.
13. van Beekvelt M.C., van Engelen B.G., Wevers R.A., Colier W.N. Near-infrared spectroscopy in chronic progressive external ophthalmoplegia: adipose tissue thickness confounds decreased muscle oxygen consumption. Ann Neurol. 51:2002;272-273.
14. 31P magnetic resonance spectroscopy. Ann Neurol. 42:1997;573-579.
15. Lodi R., Hart P.E., Rajagopalan B., et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann Neurol. 49:2001;590-596.
16. Uimonen S., Moilanen J.S., Sorri M., Hassinen I.E., Majamaa K. Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression. Hum Genet. 108:2001;284-289.
17. Majamaa-Voltti K., Peuhkurinen K., Kortelainen M.L., Hassinen I.E., Majamaa K. Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G. BMC Cardiovasc Disord. 2:2002;12.
18. Kornblum C., Broicher R., Walther E., et al. Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions. Neurology. 56:2001;1409-1412.
19. Taivassalo T., De Stefano N., Matthews P.M., et al. Aerobic training benefits patients with mitochondrial myopathies more than other chronic myopathies. Neurology. 48:1997;A214.
20. Clark K., Bindoff L.A., Lightowlers R.N., et al. Correction of a mitochondrial DNA defect in human skeletal muscle. Nat Genet. 16:1997;222-224.
21. Taivassalo T., Fu K., Johns T., Arnold D., Karpati G., Shoubridge E.A. Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet. 8:1999;1047-1052.
22. Taylor R.W., Chinnery P.F., Turnbull D.M., Lightowlers R.N. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet. 15:1997;212-215.
23. Manfredi G., Fu J., Ojaimi J., et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet. 30:2002;394-399.
24. Guy J., Qi X., Pallotti F., et al. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy. Ann Neurol. 52:2002;534-542.