A new point mutation associated with mitochondrial encephalomyopathy

Human Molecular Genetics

Volumn 2, Issue 12, 1993, Pages 2081-2087

  Morten, K J ^a   Cooper, J M ^a,b   Brown, G K ^a,c   Lake, B D ^a,d   Pike, D ^a,e   Poulton, J ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^e CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; TRANSFER RNA;

ADOLESCENT; ADULT; ARTICLE; BLOOD; CASE REPORT; CONTROLLED STUDY; DEMENTIA; DIABETES MELLITUS; ENCEPHALOMYOPATHY; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HYPOPARATHYROIDISM; LACTIC ACIDOSIS; MELAS SYNDROME; MITOCHONDRIAL MYOPATHY; MOTHER; MUSCLE; POINT MUTATION; PRIORITY JOURNAL; RETINOPATHY; SCHOOL CHILD; SIBLING; STROKE;

ADULT; ANIMAL; BASE SEQUENCE; BIOPSY; CASE REPORT; CHILD; COMPARATIVE STUDY; DNA PRIMERS; FEMALE; HUMAN; INFANT, NEWBORN; MALE; MELAS SYNDROME; MIDDLE AGE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL MYOPATHIES; MOLECULAR SEQUENCE DATA; MOTHERS; MUSCLES; NUCLEIC ACID CONFORMATION; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA, TRANSFER, LEU; SEQUENCE HOMOLOGY, NUCLEIC ACID; SUPPORT, NON-U.S. GOV'T;

EID: 0027715020     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/2.12.2081     Document Type: Article

References (27)

1. Wallace, D.C., Singh, G., Lott, M.T., Hodge, J.A., Schur, T.G., Lezza, A.L., Elsas, L.J. II and Nikoskelainen, E.K. (1988) Science 242, 1427-30.
2. Howell, N. and McCullough, D. (1990) Am. J. Hum. Genet. 47, 629-634.
3. Holt, I.J., Harding, A.E., Cooper, J.M., Schapira, A. H. V., Toscano, A., Clark, J.B. and Motgan-Hughes, J. A. (1989) Ann. Neurol. 26, 699-708.
4. Shoffher, J.M., Lott, M., Hodge, J., Lezza, A.M.S., Seibel, P., Ballinger, S.W. and Wallace, D.C. (1990) Cell 61, 931-937.
5. Goto, Y., Nonaka, I. and Horai, S. (1990) Nature 348, 651-3.
6. Goto, Y., Nonaka, I. and Horai, S. (1991) Biochem Biophys Acta 1097, 238-40.
7. Hammans, S.R., Sweeney, M.G., Brockington, M., Motgan-Hughes, J.A. and Harding, A.E. (1991) Lancet 337, 1311-2.
8. Goto, Y., Horai, S., Matsuoka, T., Koga, Y., Nihei, K., Kpbayashi, M. and Nonaka, I. (1992a) Neurology 42, 545-550.
9. Ciaiialoni, E., Ricci, E., Shanske, S., Moraes, C. T., Silvestri, G., Hirano, M., Simonetti, S., et al (1992) Aim. Neurology 31, 391-398.
10. van de Ouweland, J.M.W, Lemkes, H.H.P., Ruitenbeek, W., Sandkuiji, L.A., de Vijlder, M.F., Struyvenberg, J.J.P., van de Kamp, J.J.P. and Masson, J.A. (1992) Nature genetics 1, 369-371.
11. Reardon, W., Ross, R.J.M., Sweeney, M.G., Luxton, L.M., Pembrey, M.E, Harding, A.E. and Trembath, R.C. (1992) Lancet 340, 1376-79.
12. Hess, J.F., Parisis, M., Bennet, J.L. and Clayton, D.A. (1991) Nature 351, 236-9.
13. King, M. P., Koga, Y., Davidson, M. and Schon, E. (1992) Molecular and Cellular Biology 12, 480-490.
14. Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S.T., Nonaka, I., Angelini, C. and Attardi, G. (1992) Proc. Natl. Acad. Sci. USA 89, 4221-4225.
15. Goto, Y., Tojo, M., Tohyama, J., Horai, S. and Nonaka I. (1992b) Annals of Neurology 31, 672-674.
16. Bindoff, L.A., Howell, N., Poulton, J., McCullough, D., Morten, K.J., Lightowlers, R.N., Turnbull, D.M., Weber, K. (1993) Molecular and Cellular Biology. In Press.
17. Sweeney, M.G., Bundey, S., Brocldngton, M., Poulton, K.R., Winery, B. and Harding, A.E. Muscular dystrophy grant holders meeting, 12th-13th July 1993.
18. Silvestri, G., Shanske, S., Whitley, C.B., Schimmenti, L.A., Smith, S.A. and DiMauro, S. (1993) Neurology 43, A402.
19. Zeviani, M., Gellera, C., Antozzi, C., Rimoldi, M., Villani, F., Tiranti, V., DiDonato, S. (1991a) Lancet 338, 143-147.
20. Cotton, R.G.H., Rodrigues, N.R. and Cambell R. D. (1988) Proc. Nad. Acad. Sci. 85, 4397-4401.
21. Zeviani, M., Amati, P., Bresolin, N., Antozzi, C., Piccolo, G., Toscano, A. and DiDonata, S. (1991b) Am.J.Hum.Genet. 48, 203-211.
22. Holt, I.J., Harding, A.E., Petty, R.K.H. and Morgan-Hughes, J.A. (1990) Am J Hum Genet 46, 428-433.
23. Morgan-Hughes, J.A., Darveniza, P., Kahn, S.N., Landon, D.N., Sherratt, R.M., Land, J.M. and Clark, J.B. (1977) Brain 100, 617-640.
24. Mann, V.M., Cooper, J.M., Krige, D., Daniel, S.E., Schapira, A.H.V. and Marsden, C.D. (1992) Brain 115, 333-342.
25. Lowry, O.H., Rosenbrough, J., Aar, A.L. and Randall, R.J. (1951) J. Biol. Chem. 193: 265-275.
26. Anderson, S., Bankier, A.T., Barrell, B.G., de Bruijn, M.H., Coulson, A.R., Drouin, J., Eperon, I.C., Nierlich, D.P., Roe, B.A., Sanger, F., Schreier, P.H., Smith, A.J.H., Staden, R., Young, I.G. (1981) Nature 290, 457-465.
27. Kruse, B., Narasimhan, N. and Atlardi, G. (1989) Cell 98, 391-7.