DIFFERENTIAL-DIAGNOSIS OF FATAL AND BENIGN CYTOCHROME-C OXIDASE-DEFICIENT MYOPATHIES OF INFANCY - AN IMMUNOHISTOCHEMICAL APPROACH

被引：77

作者：

TRITSCHLER, HJ

BONILLA, E

LOMBES, A

ANDREETTA, F

SERVIDEI, S

SCHNEYDER, B

MIRANDA, AF

SCHON, EA

KADENBACH, B

DIMAURO, S

机构：

[1] COLUMBIA UNIV COLL PHYS & SURG, DEPT NEUROSURG, ROOM 4-531, 630 W 168TH ST, NEW YORK, NY 10032 USA

[2] COLUMBIA UNIV COLL PHYS & SURG, DEPT PATHOL, NEW YORK, NY 10032 USA

[3] COLUMBIA UNIV COLL PHYS & SURG, DEPT GENET & DEV, NEW YORK, NY 10032 USA

[4] UNIV CATTOLICA SACRO CUORE, I-00168 ROME, ITALY

[5] UNIV MARBURG, FACHBEREICH CHEM, W-3550 MARBURG, GERMANY

来源：

NEUROLOGY | 1991年 / 41卷 / 02期

关键词：

D O I：

10.1212/WNL.41.2_Part_1.300

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：300 / 305

页数：6

共 21 条

[1] IMMUNOCYTOCHEMICAL STUDY OF NEBULIN IN DUCHENNE MUSCULAR-DYSTROPHY [J].

BONILLA, E ;

MIRANDA, AF ;

PRELLE, A ;

SALVIATI, G ;

BETTO, R ;

ZEVIANI, M ;

SCHON, EA ;

DIMAURO, S ;

ROWLAND, LP .

NEUROLOGY, 1988, 38 (10) :1600-1603

[2] APPLICATION OF NILE BLUE AND NILE RED, 2 FLUORESCENT-PROBES, FOR DETECTION OF LIPID DROPLETS IN HUMAN SKELETAL-MUSCLE [J].

BONILLA, E ;

PRELLE, A .

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 1987, 35 (05) :619-621

[3] ELECTRON CYTOCHEMISTRY OF CRYSTALLINE INCLUSIONS IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA [J].

BONILLA, E ;

SCHOTLAND, DL ;

DIMAURO, S ;

ALDOVER, B .

JOURNAL OF ULTRASTRUCTURE RESEARCH, 1975, 51 (03) :404-408

[4] FATAL INFANTILE CYTOCHROME-C OXIDASE DEFICIENCY - DECREASE OF IMMUNOLOGICALLY DETECTABLE ENZYME IN MUSCLE [J].

BRESOLIN, N ;

ZEVIANI, M ;

BONILLA, E ;

MILLER, RH ;

LEECH, RW ;

SHANSKE, S ;

NAKAGAWA, M ;

DIMAURO, S .

NEUROLOGY, 1985, 35 (06) :802-812

[5] MITOCHONDRIAL MYOPATHIES [J].

DIMAURO, S ;

BONILLA, E ;

ZEVIANI, M ;

SERVIDEI, S ;

DEVIVO, DC ;

SCHON, EA .

JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 :113-128

[6] BENIGN INFANTILE MITOCHONDRIAL MYOPATHY DUE TO REVERSIBLE CYTOCHROME-C OXIDASE DEFICIENCY [J].

DIMAURO, S ;

NICHOLSON, JF ;

HAYS, AP ;

EASTWOOD, AB ;

PAPADIMITRIOU, A ;

KOENIGSBERGER, R ;

DEVIVO, DC .

ANNALS OF NEUROLOGY, 1983, 14 (02) :226-234

[7] 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

[8]

DIMAURO S, 1986, ANN NY ACAD SCI, V488, P19

[9] CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGH SYNDROME [J].

DIMAURO, S ;

SERVIDEI, S ;

ZEVIANI, M ;

DIROCCO, M ;

DEVIVO, DC ;

DIDONATO, S ;

UZIEL, G ;

BERRY, K ;

HOGANSON, G ;

JOHNSEN, SD ;

JOHNSON, PC .

ANNALS OF NEUROLOGY, 1987, 22 (04) :498-506

[10] MITOCHONDRIAL MYOPATHIES [J].

DIMAURO, S ;

BONILLA, E ;

ZEVIANI, M ;

NAKAGAWA, M ;

DEVIVO, DC .

ANNALS OF NEUROLOGY, 1985, 17 (06) :521-538

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