MITOCHONDRIAL MYOPATHIES

被引：720

作者：

DIMAURO, S ^{[1
]}

BONILLA, E ^{[1
]}

ZEVIANI, M ^{[1
]}

NAKAGAWA, M ^{[1
]}

DEVIVO, DC ^{[1
]}

机构：

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

来源：

ANNALS OF NEUROLOGY | 1985年 / 17卷 / 06期

关键词：

D O I：

10.1002/ana.410170602

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：521 / 538

页数：18

共 112 条

[1] KEARNS-SAYRE SYNDROME WITH REDUCED PLASMA AND CEREBROSPINAL-FLUID FOLATE [J].

ALLEN, RJ ;

DIMAURO, S ;

COULTER, DL ;

PAPADIMITRIOU, A ;

ROTHENBERG, SP .

ANNALS OF NEUROLOGY, 1983, 13 (06) :679-682

[2] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J].

ANDERSON, S ;

BANKIER, AT ;

BARRELL, BG ;

DEBRUIJN, MHL ;

COULSON, AR ;

DROUIN, J ;

EPERON, IC ;

NIERLICH, DP ;

ROE, BA ;

SANGER, F ;

SCHREIER, PH ;

SMITH, AJH ;

STADEN, R ;

YOUNG, IG .

NATURE, 1981, 290 (5806) :457-465

[3] AN X-LINKED MITOCHONDRIAL DISEASE AFFECTING CARDIAC-MUSCLE, SKELETAL-MUSCLE AND NEUTROPHIL LEUKOCYTES [J].

BARTH, PG ;

SCHOLTE, HR ;

BERDEN, JA ;

VANDERKLEIVANMOORSEL, JM ;

LUYTHOUWEN, IEM ;

VANTVEERKORTHOF, ET ;

VANDERHARTEN, JJ ;

SOBOTKAPLOJHAR, MA .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1983, 62 (1-3) :327-355

[4] LUMPING OR SPLITTING - OPHTHALMOPLEGIA-PLUS OR KEARNS-SAYRE SYNDROME [J].

BERENBERG, RA ;

PELLOCK, JM ;

DIMAURO, S ;

SCHOTLAND, DL ;

BONILLA, E ;

EASTWOOD, A ;

HAYS, A ;

VICALE, CT ;

BEHRENS, M ;

CHUTORIAN, A ;

ROWLAND, LP .

ANNALS OF NEUROLOGY, 1977, 1 (01) :37-54

[5] ULTRASTRUCTURAL-STUDY OF GLOBULAR INCLUSIONS IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA [J].

BONILLA, E ;

SCHOTLAND, DL ;

DIMAURO, S .

ACTA NEUROPATHOLOGICA, 1980, 52 (01) :35-40

[6] 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

[7] 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

[8] FASTING HYPOGLYCEMIA RESULTING FROM HEPATIC CARNITINE PALMITOYL TRANSFERASE DEFICIENCY [J].

BOUGNERES, PF ;

SAUDUBRAY, JM ;

MARSAC, C ;

BERNARD, O ;

ODIEVRE, M ;

GIRARD, J .

JOURNAL OF PEDIATRICS, 1981, 98 (05) :742-746

[9] 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

[10]

BRESOLIN N, NEUROLOGY CLEVELAND

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