A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia [5]

American Journal of Human Genetics

Volumn 65, Issue 1, 1999, Pages 256-260

  Kaukonen, J ^a   Zeviani, M ^a   Comi, G P ^a   Piscaglia, M G ^a   Peltonen, L ^a   Suomalainen, A ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 4Q; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; EXTERNAL OPHTHALMOPLEGIA; EXTRAOCULAR MUSCLE; GENE DELETION; GENE LOCUS; GENETIC PREDISPOSITION; HUMAN; LETTER; ONSET AGE; PEDIGREE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PTOSIS; SOUTHERN BLOTTING;

EID: 0033365348     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302445     Document Type: Letter

References (24)

1. A Barrientos J Casademont A Saiz F Cardellach V Volpini A Solans E Tolosa Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion Am J Hum Genet 58 1996 a 963 970
2. A Barrientos V Volpini J Casademont D Genis J-M Manzanares I Ferrer J Corral A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome J Clin Invest 97 1996 b 1570 1576
3. RW Cottingham Jr RM Idury AA Schäffer Faster sequential genetic linkage computations Am J Hum Genet 53 1993 252 263
4. C Dib S Fauré C Fizames D Samson N Drouot A Vignal P Millasseau A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature 380 1996 152 154
5. YS Fan HM Yang CC Lin Assignment of the human muscle adenine nucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridization Cytogenet Cell Genet 60 1992 29 30
6. BH Graham KG Waymire B Cottrell IA Trounce GR MacGregor DC Wallace A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator Nat Genet 16 1997 226 234
7. M Hirano J Carcia-de-Yebenes AC Jones I Nishino S DiMauro JR Carlo AN Bender Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter Am J Hum Genet 63 1998 526 533
8. H Inoue Y Tanizawa J Wasson P Behn K Kalidas E Bernal-Mizrachi M Mueckler A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat Genet 20 1998 143 148
9. JA Kaukonen P Amati A Suomalainen A Rötig M-G Piscaglia F Salvi J Weissenbach An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p Am J Hum Genet 58 1996 763 769
10. GM Lathrop JM Lalouel C Julier J Ott Strategies for multilocus linkage analysis in humans Proc Natl Acad Sci USA 81 1984 3443 3446
11. A Melberg PO Lundberg KG Henriksson Y Olsson E Stälberg Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism Muscle Nerve 19 1996 751 757
12. I Nishino A Spinazzola M Hirano Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder Science 283 1999 689 692
13. J Ott Computer-simulation methods in human linkage analysis Proc Natl Acad Sci USA 86 1989 4175 4178
14. MH Polymeropoulos RG Swift M Swift Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 Nat Genet 8 1994 95 97
15. AA Schäffer SK Gupta K Shiriram RW Cottingham Jr Avoiding recomputation in linkage analysis Hum Hered 44 1994 225 237
16. S Servidei M Zeviani G Manfredi E Ricci G Silvestri E Bertini C Gellera Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic and biochemical studies Neurology 41 1991 1053 1059
17. A Suomalainen J Kaukonen P Amati R Timonen M Haltia J Weissenbach M Zeviani An autosomal locus predisposing to deletions of mitochondrial DNA Nat Genet 9 1995 146 151
18. A Suomalainen A Majander M Haltia H Somer J Lönnqvist ML Savontaus L Peltonen Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia J Clin Invest 90 1992 61 66
19. A Suomalainen A Majander M Wallin K Setala K Kontula H Leinonen T Salmi Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease Neurology 48 1997 1244 1253
20. DE Weeks J Ott GM Lathrop SLINK: a general simulation program for linkage analysis Am J Hum Genet Suppl 47 1990 A204
21. C Wijmenga RR Frants OF Brouwer P Moerer JL Weber GW Padberg Location of facioscapulohumeral muscular dystrophy gene on chromosome 4 Lancet 336 1990 651 653
22. M Zeviani N Bresolin C Gellera A Bordoni M Pannacci P Amati M Moggio Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease Am J Hum Genet 47 1990 904 914
23. M Zeviani CT Moraes S DiMauro H Nakase E Bonilla EA Schon LP Rowland Deletions of mitochondrial DNA in Keyrns-Sayre syndrome Neurology 38 1988 1339 1346
24. M Zeviani S Servidei C Gellera E Bertini S DiMauro S DiDonato An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region Nature 339 1989 309 311