MYOINTESTINAL, NEUROINTESTINAL, GASTROINTESTINAL ENCEPHALOPATHY (MNGIE SYNDROME) DUE TO PARTIAL DEFICIENCY OF CYTOCHROME-C-OXIDASE - A NEW MITOCHONDRIAL MULTISYSTEM DISORDER

被引:135
作者
BARDOSI, A
CREUTZFELDT, W
DIMAURO, S
FELGENHAUER, K
FRIEDE, RL
GOEBEL, HH
KOHLSCHUTTER, A
MAYER, G
RAHLF, G
SERVIDEI, S
VANLESSEN, G
WETTERLING, T
机构
[1] UNIV GOTTINGEN,NEUROL ABT,D-3400 GOTTINGEN,FED REP GER
[2] UNIV GOTTINGEN,PATHOL ABT,D-3400 GOTTINGEN,FED REP GER
[3] UNIV GOTTINGEN,INNERE MED ABT,D-3400 GOTTINGEN,FED REP GER
[4] UNIV MAINZ,NEUROPATHOL ABT,D-6500 MAINZ,FED REP GER
[5] UNIV HAMBURG,KINDERKLIN,D-2000 HAMBURG 13,FED REP GER
[6] COLUMBIA UNIV COLL PHYS & SURG,H HOUSTON MERRIT CLIN RES CTR MUSCULAR DYSTROPHY & RELATED DIS,NEW YORK,NY 10032
关键词
D O I
10.1007/BF00688189
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:248 / 258
页数:11
相关论文
共 38 条
  • [1] LEUKOENCEPHALOPATHY IN OCULOCRANIOSOMATIC NEUROMUSCULAR DISEASE WITH RAGGED-RED FIBERS - MITOCHONDRIAL ABNORMALITIES DEMONSTRATED BY COMPUTERIZED TOMOGRAPHY
    BERTORINI, T
    ENGEL, WK
    DICHIRO, G
    DALAKAS, M
    [J]. ARCHIVES OF NEUROLOGY, 1978, 35 (10) : 643 - 647
  • [2] 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
    BOUSTANY, RN
    APRILLE, JR
    HALPERIN, J
    LEVY, H
    DELONG, GR
    [J]. ANNALS OF NEUROLOGY, 1983, 14 (04) : 462 - 470
  • [3] NEURO-MYOPATHY AND VITAMIN-E-DEFICIENCY IN MAN
    BURCK, U
    GOEBEL, HH
    KUHLENDAHL, HD
    MEIER, C
    GOEBEL, KM
    [J]. NEUROPEDIATRICS, 1981, 12 (03) : 267 - 278
  • [4] MITOCHONDRIA AND DISEASE
    CARAFOLI, E
    ROMAN, I
    [J]. MOLECULAR ASPECTS OF MEDICINE, 1980, 3 (05) : 295 - 429
  • [5] MENKES KINKY HAIR DISEASE - FURTHER DEFINITION OF DEFECT IN COPPER TRANSPORT
    DANKS, DM
    CARTWRIGHT, E
    STEVENS, BJ
    TOWNLEY, RRW
    [J]. SCIENCE, 1973, 179 (4078) : 1140 - 1142
  • [6] BENIGN INFANTILE MITOCHONDRIAL MYOPATHY DUE TO REVERSIBLE CYTOCHROME-C OXIDASE DEFICIENCY
    DIMAURO, S
    NICHOLSON, JF
    HAYS, AP
    EASTWOOD, AB
    PAPADIMITRIOU, A
    KOENIGSBERGER, R
    DEVIVO, DC
    [J]. ANNALS OF NEUROLOGY, 1983, 14 (02) : 226 - 234
  • [7] FATAL INFANTILE MITOCHONDRIAL MYOPATHY AND RENAL DYSFUNCTION DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY
    DIMAURO, S
    MENDELL, JR
    SAHENK, Z
    BACHMAN, D
    SCARPA, A
    SCOFIELD, RM
    REINER, C
    [J]. NEUROLOGY, 1980, 30 (08) : 795 - 804
  • [8] MITOCHONDRIAL MYOPATHIES
    DIMAURO, S
    BONILLA, E
    ZEVIANI, M
    NAKAGAWA, M
    DEVIVO, DC
    [J]. ANNALS OF NEUROLOGY, 1985, 17 (06) : 521 - 538
  • [9] MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (MITOCHONDRIAL ABNORMALITIES) - DISEASE ENTITY OR A SYNDROME - LIGHT-MICROSCOPIC AND ELECTRON-MICROSCOPIC STUDIES OF 2 CASES AND REVIEW OF LITERATURE
    FUKUHARA, N
    TOKIGUCHI, S
    SHIRAKAWA, K
    TSUBAKI, T
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1980, 47 (01) : 117 - 133