2 CASES OF NADH-COENZYME-Q REDUCTASE DEFICIENCY - RELATIONSHIP TO MELAS SYNDROME

被引:66
作者
KOBAYASHI, M
MORISHITA, H
SUGIYAMA, N
YOKOCHI, K
NAKANO, M
WADA, Y
HOTTA, Y
TERAUCHI, A
NONAKA, I
机构
[1] NAGOYA CITY UNIV, SCH MED, DEPT ANAT 1, NAGOYA, AICHI 467, JAPAN
[2] NATL CTR NERVOUS MENTAL & MUSCULAR DISORDERS, KODAIRA, TOKYO 187, JAPAN
[3] HIGASHIMATSUMOTO NATL SANATORIUM, NAGANO, JAPAN
关键词
D O I
10.1016/S0022-3476(87)80158-0
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:223 / 227
页数:5
相关论文
共 25 条
[1]   PYRUVATE-CARBOXYLASE DEFICIENCY AND LACTIC-ACIDOSIS IN A RETARDED-CHILD WITHOUT LEIGHS DISEASE [J].
ATKIN, BM ;
BUIST, NRM ;
UTTER, MF ;
LEITER, AB ;
BANKER, BQ .
PEDIATRIC RESEARCH, 1979, 13 (02) :109-116
[2]   PYRUVATE OXIDATION IN RAT AND HUMAN SKELETAL-MUSCLE MITOCHONDRIA [J].
BOOKELMAN, H ;
TRIJBELS, JMF ;
SENGERS, RCA ;
JANSSEN, AJM ;
VEERKAMP, JH ;
STADHOUDERS, AM .
BIOCHEMICAL MEDICINE, 1978, 20 (03) :395-403
[3]   6 UNIDENTIFIED READING FRAMES OF HUMAN MITOCHONDRIAL-DNA ENCODE COMPONENTS OF THE RESPIRATORY-CHAIN NADH DEHYDROGENASE [J].
CHOMYN, A ;
MARIOTTINI, P ;
CLEETER, MWJ ;
RAGAN, CI ;
MATSUNOYAGI, A ;
HATEFI, Y ;
DOOLITTLE, RF ;
ATTARDI, G .
NATURE, 1985, 314 (6012) :592-597
[4]   WHY DOES BRAIN MAKE LACTATE [J].
COHEN, SR .
JOURNAL OF THEORETICAL BIOLOGY, 1985, 112 (02) :429-432
[5]  
COOPERSTEIN SJ, 1951, J BIOL CHEM, V189, P665
[6]   MITOCHONDRIAL MYOPATHIES [J].
DIMAURO, S ;
BONILLA, E ;
ZEVIANI, M ;
NAKAGAWA, M ;
DEVIVO, DC .
ANNALS OF NEUROLOGY, 1985, 17 (06) :521-538
[7]   PYRUVATE DECARBOXYLASE DEFICIENCY IN SUB-ACUTE NECROTIZING ENCEPHALOMYELOPATHY [J].
EVANS, OB .
ARCHIVES OF NEUROLOGY, 1981, 38 (08) :515-519
[8]   ESTIMATION OF NADH OXIDATION IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA [J].
FISCHER, JC ;
RUITENBEEK, W ;
TRIJBELS, JMF ;
VEERKAMP, JH ;
STADHOUDERS, AM ;
SENGERS, RCA ;
JANSSEN, AJM .
CLINICA CHIMICA ACTA, 1986, 155 (03) :263-273
[9]   TRICHOPOLIODYSTROPHY .1. REPORT OF A CASE AND BIOCHEMICAL STUDIES [J].
FRENCH, JH ;
SHERARD, ES ;
BROTZ, M ;
LUBELL, H ;
MOORE, CL .
ARCHIVES OF NEUROLOGY, 1972, 26 (03) :229-&
[10]   MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (MITOCHONDRIAL ABNORMALITIES) - DISEASE ENTITY OR A SYNDROME - LIGHT-MICROSCOPIC AND ELECTRON-MICROSCOPIC STUDIES OF 2 CASES AND REVIEW OF LITERATURE [J].
FUKUHARA, N ;
TOKIGUCHI, S ;
SHIRAKAWA, K ;
TSUBAKI, T .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1980, 47 (01) :117-133