CHILDHOOD ENCEPHALOMYOPATHY WITH CYTOCHROME-C-OXIDASE DEFICIENCY, ATAXIA, MUSCLE WASTING, AND MENTAL IMPAIRMENT

被引：29

作者：

ANGELINI, C

BRESOLIN, N

PEGOLO, G

BET, L

RINALDO, P

TREVISAN, C

VERGANI, L

机构：

[1] UNIV PADUA,CTR REG NEUROMUSCULAR,I-35100 PADUA,ITALY

[2] UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY

[3] UNIV MILAN,CTR DINO FERRARI,DEPT NEUROL,I-20122 MILAN,ITALY

来源：

NEUROLOGY | 1986年 / 36卷 / 08期

关键词：

D O I：

10.1212/WNL.36.8.1048

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：1048 / 1052

页数：5

共 35 条

[1] RAPID DIAGNOSIS OF PYRUVATE AND KETOGLUTARATE DEHYDROGENASE DEFICIENCIES IN PLATELET-ENRICHED PREPARATIONS FROM BLOOD [J].

BLASS, JP ;

CEDERBAUM, SD ;

KARK, RAP .

CLINICA CHIMICA ACTA, 1977, 75 (01) :21-30

[2] MEASUREMENT OF CYTOCHROMES IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA, ISOLATED FROM FRESH AND FROZEN STORED MUSCLE SPECIMENS [J].

BOOKELMAN, H ;

TRIJBELS, JMF ;

SENGERS, RCA ;

JANSSEN, AJM .

BIOCHEMICAL MEDICINE, 1978, 19 (03) :366-373

[3] LEIGHS NECROTIZING ENCEPHALOMYELOPATHY - NEURO-OPHTHALMOLOGICAL ABNORMALITIES [J].

BORIT, A .

ARCHIVES OF OPHTHALMOLOGY, 1971, 85 (04) :438-&

[4] 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

[5] 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

[6] METHOD FOR DETERMINATION OF CARNITINE IN PICOMOLE RANGE [J].

CEDERBLA.G ;

LINDSTED.S .

CLINICA CHIMICA ACTA, 1972, 37 (NMAR) :235-&

[7] MENKES KINKY HAIR DISEASE - FURTHER DEFINITION OF DEFECT IN COPPER TRANSPORT [J].

DANKS, DM ;

CARTWRIGHT, E ;

STEVENS, BJ ;

TOWNLEY, RRW .

SCIENCE, 1973, 179 (4078) :1140-1142

[8] DEFECTIVE ACTIVATION OF THE PYRUVATE-DEHYDROGENASE COMPLEX IN SUB-ACUTE NECROTIZING ENCEPHALOMYELOPATHY (LEIGH DISEASE) [J].

DEVIVO, DC ;

HAYMOND, MW ;

OBERT, KA ;

NELSON, JS ;

PAGLIARA, AS .

ANNALS OF NEUROLOGY, 1979, 6 (06) :483-494

[9] 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

[10] 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

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