The kidney in mitochondrial cytopathies

被引:68
作者
Niaudet, P
Rotig, A
机构
关键词
D O I
10.1038/ki.1997.140
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1000 / 1007
页数:8
相关论文
共 101 条
[1]   TREATMENT OF MITOCHONDRIAL MYOPATHY DUE TO COMPLEX-III DEFICIENCY WITH VITAMINS K3 AND C - A P-31-NMR FOLLOW-UP-STUDY [J].
ARGOV, Z ;
BANK, WJ ;
MARIS, J ;
ELEFF, S ;
KENNAWAY, NG ;
OLSON, RE ;
CHANCE, B .
ANNALS OF NEUROLOGY, 1986, 19 (06) :598-602
[2]   MATERNALLY TRANSMITTED DIABETES AND DEAFNESS ASSOCIATED WITH A 10.4 KB MITOCHONDRIAL-DNA DELETION [J].
BALLINGER, SW ;
SHOFFNER, JM ;
HEDAYA, EV ;
TROUNCE, I ;
POLAK, MA ;
KOONTZ, DA ;
WALLACE, DC .
NATURE GENETICS, 1992, 1 (01) :11-15
[3]   LUMPING OR SPLITTING - OPHTHALMOPLEGIA-PLUS OR KEARNS-SAYRE SYNDROME [J].
BERENBERG, RA ;
PELLOCK, JM ;
DIMAURO, S ;
SCHOTLAND, DL ;
BONILLA, E ;
EASTWOOD, A ;
HAYS, A ;
VICALE, CT ;
BEHRENS, M ;
CHUTORIAN, A ;
ROWLAND, LP .
ANNALS OF NEUROLOGY, 1977, 1 (01) :37-54
[4]   FATAL LACTIC-ACIDOSIS IN INFANCY WITH A DEFECT OF COMPLEX-III OF THE RESPIRATORY-CHAIN [J].
BIRCHMACHIN, MA ;
SHEPHERD, IM ;
WATMOUGH, NJ ;
SHERRATT, HSA ;
BARTLETT, K ;
DARLEYUSMAR, VM ;
MILLIGAN, DWA ;
WELCH, RJ ;
AYNSLEYGREEN, A ;
TURNBULL, DM .
PEDIATRIC RESEARCH, 1989, 25 (05) :553-559
[5]   IDENTIFICATION OF A PROMOTER FOR TRANSCRIPTION OF THE HEAVY STRAND OF HUMAN MTDNA - INVITRO TRANSCRIPTION AND DELETION MUTAGENESIS [J].
BOGENHAGEN, DF ;
APPLEGATE, EF ;
YOZA, BK .
CELL, 1984, 36 (04) :1105-1113
[6]   MUTATION OF A NUCLEAR SUCCINATE-DEHYDROGENASE GENE RESULTS IN MITOCHONDRIAL RESPIRATORY-CHAIN DEFICIENCY [J].
BOURGERON, T ;
RUSTIN, P ;
CHRETIEN, D ;
BIRCHMACHIN, M ;
BOURGEOIS, M ;
VIEGASPEQUIGNOT, E ;
MUNNICH, A ;
ROTIG, A .
NATURE GENETICS, 1995, 11 (02) :144-149
[7]   MITOCHONDRIAL CYTOCHROME DEFICIENCY PRESENTING AS A MYOPATHY WITH HYPOTONIA, EXTERNAL OPHTHALMOPLEGIA, AND LACTIC-ACIDOSIS IN AN INFANT AND AS FATAL HEPATOPATHY IN A 2ND COUSIN [J].
BOUSTANY, RN ;
APRILLE, JR ;
HALPERIN, J ;
LEVY, H ;
DELONG, GR .
ANNALS OF NEUROLOGY, 1983, 14 (04) :462-470
[8]   UBIDECARENONE IN THE TREATMENT OF MITOCHONDRIAL MYOPATHIES - A MULTICENTER DOUBLE-BLIND TRIAL [J].
BRESOLIN, N ;
DORIGUZZI, C ;
PONZETTO, C ;
ANGELINI, C ;
MORONI, I ;
CASTELLI, E ;
COSSUTTA, E ;
BINDA, A ;
GALLANTI, A ;
GABELLINI, S ;
PICCOLO, G ;
MARTINUZZI, A ;
CIAFALONI, E ;
ARNAUDO, E ;
LICIARDELLO, L ;
CARENZI, A ;
SCARLATO, G .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1990, 100 (1-2) :70-78
[9]  
BRUN P, 1994, JOURN PAR PED PAR FL, P227
[10]   PROGRESSION FROM MERRF TO MELAS PHENOTYPE IN A PATIENT WITH COMBINED RESPIRATORY COMPLEX-I AND COMPLEX-IV DEFICIENCIES [J].
BYRNE, E ;
TROUNCE, I ;
DENNETT, X ;
GILLIGAN, B ;
MORLEY, JB ;
MARZUKI, S .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1988, 88 (1-3) :327-337