Mitochondrial DNA variants in inclusion body myositis

Neuromuscular Disorders

Volumn 10, Issue 8, 2000, Pages 604-611

  Kok, Chee Choy ^a,b   Boyt, Adam ^c   Gaudieri, Silvana ^d   Martins, Ralph ^c   Askanas, Valerie ^e   Dalakas, Marinos ^f   Kiers, Lyn ^g   Mastaglia, Frank ^a   Garlepp, Michael ^b  

^a PATHWEST LABORATORY MEDICINE   (Australia)

^b CURTIN UNIVERSITY   (Australia)

^c HOLLYWOOD PRIVATE HOSPITAL   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g ROYAL MELBOURNE HOSPITAL   (Australia)

Author keywords

Alzheimer's disease; Inclusion body myositis; Mitochondrial DNA; Phylogenetic analysis

Indexed keywords

MITOCHONDRIAL DNA; NUCLEOTIDE;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE MUTATION; HUMAN; HUMAN CELL; INCLUSION BODY MYOSITIS; MUTATION RATE; PATHOGENESIS; PHYLOGENY; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; EVOLUTION, MOLECULAR; HUMAN; MIDDLE AGE; MULTIGENE FAMILY; MUTATION; MYOSITIS, INCLUSION BODY; PHYLOGENY; SUPPORT, NON-U.S. GOV'T;

EID: 0033784199     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00144-9     Document Type: Article

References (34)

1. Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: Current concepts of diagnosis and pathogenesis
2. Polymyositis, dermatomyositis and inclusion body myositis
3. Inclusion body myositis
4. Inclusion body myositis and myopathies
5. Treatment of inflammatory myopathies
6. Monoclonal antibody analysis of mononuclear cells in myopathies: II. Phenotypes of autoinvasive cells in polymyositis and inclusion body myositis
7. Ragged red fibres in normal aging and inflammatory myopathy
8. Mitochondrial DNA deletions in muscle fibers in inclusion body myositis
9. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients
10. Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis
11. Evolving concepts of inclusion-body myositis
12. Mitochondrial mutations in human degenerative diseases and aging
13. Mitochondrial DNA and disease
14. Mitochondrial DNA mutations and pathogenesis
15. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
16. An autosomal locus predisposing to deletions of mitochondrial DNA
17. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p
18. A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies
19. Inclusion body myositis
20. Twisted tubulofilaments of inclusion-body myositis muscle resemble paired helical filaments of Alzheimer brain containing hyperphosphorylated tau
21. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
22. A mitochondrial DNA clone is associated with the increased risk for Alzheimer disease
23. A comparison of single nucleotide primer extension with mispairing PCR-RFLP in detecting a point mutation
24. Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
25. Improving the sensitivity of progressive multiple sequence alignment through sequence weighing positions-specific gap penalties and weight matrix choice
26. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
27. Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigrees
28. The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years
29. Cytochrome-c oxidase deficiency in Alzheimer's disease
30. Branching pattern in the evolutionary tree for human mitochondrial DNA
31. Mitochondrial DNA haplotype predicts deafness risk
32. HLA associations with inclusion body myositis