CYTOCHROME-C-OXIDASE DEFICIENCY IN MUSCLES OF A FLOPPY INFANT WITHOUT MITOCHONDRIAL MYOPATHY

被引：62

作者：

RIMOLDI, M

BOTTACCHI, E

ROSSI, L

CORNELIO, F

UZIEL, G

DIDONATO, S

机构：

[1] IST NEUROL C BESTA,NEUROMETAB DIS LAB,VIA CELORIA 11,I-20133 MILAN,ITALY

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

[3] PEDIAT CLIN,CHAIR 1,MILAN,ITALY

来源：

JOURNAL OF NEUROLOGY | 1982年 / 227卷 / 04期

关键词：

D O I：

10.1007/BF00313387

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：201 / 207

页数：7

共 19 条

[1] FRIEDREICHS ATAXIA IN NORTHERN ITALY .2. BIOCHEMICAL-STUDIES IN CULTURED-CELLS [J].

BERTAGNOLIO, B ;

UZIEL, G ;

BOTTACHI, E ;

CRENNA, G ;

DANGELO, A ;

DIDONATO, S .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1980, 7 (04) :409-412

[2] CONGENITAL HYPOTONIA REVISITED [J].

BROOKE, MH ;

CARROLL, JE ;

RINGEL, SP .

MUSCLE & NERVE, 1979, 2 (02) :84-100

[3] FATAL ATAXIC ENCEPHALOPATHY AND CARNITINE ACETYLTRANSFERASE DEFICIENCY - FUNCTIONAL DEFECT OF PYRUVATE OXIDATION [J].

DIDONATO, S ;

RIMOLDI, M ;

MOISE, A ;

BERTAGNOGLIO, B ;

UZIEL, G .

NEUROLOGY, 1979, 29 (12) :1578-1583

[4]

DIDONATO S, 1978, NEUROLOGY, V28, P1110, DOI 10.1212/WNL.28.11.1110

[5] FATAL INFANTILE MITOCHONDRIAL MYOPATHY AND RENAL DYSFUNCTION DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY [J].

DIMAURO, S ;

MENDELL, JR ;

SAHENK, Z ;

BACHMAN, D ;

SCARPA, A ;

SCOFIELD, RM ;

REINER, C .

NEUROLOGY, 1980, 30 (08) :795-804

[6]

DIMAURO S, 1981, ANN NEUROL, V10, P90

[7]

DIMAURO S, 1979, HDB CLIN NEUROLOGY, V41, P175

[8]

DUBOWITZ V, 1980, CLIN DEV MED, V76

[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]

HOPPEL CL, 1972, J BIOL CHEM, V247, P832

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