A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome

Annals of Neurology

Volumn 45, Issue 1, 1999, Pages 130-133

  De Coo, I F M ^a,b   Renier, W O ^a   Ruitenbeek, W ^a   Ter Laak, H J ^a   Bakker, M ^a   Schagger H ^c   Van Oost, B A ^a,d   Smeets, H J M ^a,e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^d UTRECHT UNIVERSITY   (Netherlands)

^e MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME B; MITOCHONDRIAL DNA; UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; AKINESIA; ARTICLE; BASE PAIRING; CLINICAL ARTICLE; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; MALE; MELAS SYNDROME; MITOCHONDRIAL RESPIRATION; PARKINSONISM; PRIORITY JOURNAL; RESPIRATORY CHAIN;

ADULT; BLOTTING, SOUTHERN; CYTOCHROME B GROUP; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX III; GENE DELETION; HUMANS; MALE; MELAS SYNDROME; MITOCHONDRIA; OXIDATIVE PHOSPHORYLATION; PARKINSON DISEASE, SECONDARY; PHENOTYPE;

EID: 0032899012     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199901)45:1<130::AID-ART21>3.0.CO;2-Z     Document Type: Article

References (18)

1. Anderson S, Bankier AT, Barrel BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290:457-465
2. Mourmans J, Wendel U, Bentlage HACM, et al. Clinical heterogeneity in respiratory chain complex III deficiency in childhood. J Neurol Sci 1997;149:111-117
3. van Erven PM, Renier WO, Gabreéls FJ, et al. Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases. Dev Med Child Neurol 1989;31:81-91
4. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. New York: Cold Spring Harbor Laboratory, 1989
5. Val gene mutation (1642G→A) in a patient with mitochondrial myopathy, lactic acidosis and stroke-like episodes (MELAS). Neurology 1998;50:293-295
6. Brown MD, Voljavec AS, Lott MT, et al. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 1992;130:163-173
7. Howell N, Kubacka I, Halvorson S, et al. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 1995;140:285-302
8. Morgan-Hughes JA. Mitochondrial diseases. In: Engel AG, Franzini-Armsttong C, eds. Myology. 2nd ed. New York: McGraw-Hill, 1994:1610-1660
9. Marin-Garcia J, Hu Y, Ananthakrishnan R, et al. A point mutation in the cytb gene of cardiac mtDNA associated with complex III deficiency in ischemic cardiomyopathy. Biochem Mol Biol Int 1996;40:487-495
10. Johns DR, Neufeld MJ. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1991;181:1358-1364
11. Oostra RJ, Bolhuis PA, Zorn Ende I, et al. Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogcnicity of the 15257 mutation. Hum Genet 1994;94:265-270
12. Dumoulin R, Sagnol I, Ferlin T, et al. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes 1996;10:389-391
13. Bouzidi MF, Carrier H, Godinot C. Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation. Biochim Biophys Acta 1996; 1317:199-209
14. De Vries DD, Went LN, Bruyn GW, et al. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996;58:703-711
15. Thyagarajan D, Shanske S, Vazquez Memije M, et al. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 1995;38:468-472
16. Nelson I, Hanna MG, Alsanjari N, et al. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Ann Neurol 1995;37:400-403
17. Hattori YN, Yoshino H, Kondo T, et al. Is Parkinson's disease a mitochondrial disorder? J Neurol Sci 1992;10:29-33
18. Mariotti C, Savarese N, Suomalainen A, et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 1995;242:304-312