CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGH SYNDROME

被引：363

作者：

DIMAURO, S

SERVIDEI, S

ZEVIANI, M

DIROCCO, M

DEVIVO, DC

DIDONATO, S

UZIEL, G

BERRY, K

HOGANSON, G

JOHNSEN, SD

JOHNSON, PC

机构：

[1] COLUMBIA UNIV COLL PHYS & SURG, DIV PEDIAT NEUROL, NEW YORK, NY 10032 USA

[2] IST NEUROL C BESTA, I-20133 MILAN, ITALY

[3] VANCOUVER GEN HOSP, VANCOUVER V5Z 1M9, BC, CANADA

[4] UNIV WISCONSIN, CTR CLIN GENET, MADISON, WI 53706 USA

[5] ST JOSEPHS HOSP & MED CTR, BARROW NEUROL INST, PHOENIX, AZ 85013 USA

来源：

关键词：

D O I：

10.1002/ana.410220409

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：498 / 506

页数：9

共 52 条

[1] CHILDHOOD ENCEPHALOMYOPATHY WITH CYTOCHROME-C-OXIDASE DEFICIENCY, ATAXIA, MUSCLE WASTING, AND MENTAL IMPAIRMENT
ANGELINI, C
BRESOLIN, N
PEGOLO, G
BET, L
RINALDO, P
TREVISAN, C
VERGANI, L
[J]. NEUROLOGY, 1986, 36 (08) : 1048 - 1052
[2] BLASS JP, 1976, LANCET, V1, P1237
[3] MEASUREMENT OF CYTOCHROMES IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA, ISOLATED FROM FRESH AND FROZEN STORED MUSCLE SPECIMENS
BOOKELMAN, H
TRIJBELS, JMF
SENGERS, RCA
JANSSEN, AJM
[J]. BIOCHEMICAL MEDICINE, 1978, 19 (03): : 366 - 373
[4] FATAL INFANTILE CYTOCHROME-C OXIDASE DEFICIENCY - DECREASE OF IMMUNOLOGICALLY DETECTABLE ENZYME IN MUSCLE
BRESOLIN, N
ZEVIANI, M
BONILLA, E
MILLER, RH
LEECH, RW
SHANSKE, S
NAKAGAWA, M
DIMAURO, S
[J]. NEUROLOGY, 1985, 35 (06) : 802 - 812
[5] STRUCTURE OF CYTOCHROME-C OXIDASE
CAPALDI, RA
MALATESTA, F
DARLEYUSMAR, VM
[J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 726 (02) : 135 - 148
[6] RAGGED-RED FIBERS IN LEIGHS DISEASE
CROSBY, TW
CHOU, SM
[J]. NEUROLOGY, 1974, 24 (01) : 49 - 54
[7] DEVIVO DC, 1986, ANN NEUROL, V20, P423
[8] DEFECTIVE ACTIVATION OF THE PYRUVATE-DEHYDROGENASE COMPLEX IN SUB-ACUTE NECROTIZING ENCEPHALOMYELOPATHY (LEIGH DISEASE)
DEVIVO, DC
HAYMOND, MW
OBERT, KA
NELSON, JS
PAGLIARA, AS
[J]. ANNALS OF NEUROLOGY, 1979, 6 (06) : 483 - 494
[9] DEVIVO DC, 1987, PEDIATRICS, P1736
[10] DEVIVO DC, 1983, MITOCHONDRIAL PATHOL, P58