DETECTION OF DELETED MITOCHONDRIAL GENOMES IN CYTOCHROME-C OXIDASE-DEFICIENT MUSCLE-FIBERS OF A PATIENT WITH KEARNS-SAYRE SYNDROME

被引:229
作者
MITA, S
SCHMIDT, B
SCHON, EA
DIMAURO, S
BONILLA, E
机构
[1] COLUMBIA PRESBYTERIAN MED CTR,COLL PHYS & SURG,DEPT NEUROL,ROOM 4-531,630 W 168TH ST,NEW YORK,NY 10032
[2] COLUMBIA PRESBYTERIAN MED CTR,H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY & RELATED DIS,NEW YORK,NY 10032
关键词
D O I
10.1073/pnas.86.23.9509
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:9509 / 9513
页数:5
相关论文
共 31 条
[1]   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
[2]  
ASHLEY T, 1987, IN SITU HYBRIDIZATIO, P197
[3]  
BERENBERG RA, 1977, ANN NEUROL, V1, P36
[4]  
BOGENHAGEN D, 1974, J BIOL CHEM, V249, P7991
[5]   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
[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]   PROGRESSIVE CYTOCHROME-C-OXIDASE DEFICIENCY IN A CASE OF KEARNS-SAYRE SYNDROME - MORPHOLOGICAL, IMMUNOLOGICAL, AND BIOCHEMICAL-STUDIES IN MUSCLE BIOPSIES AND AUTOPSY TISSUES [J].
BRESOLIN, N ;
MOGGIO, M ;
BET, L ;
GALLANTI, A ;
PRELLE, A ;
NOBILEORAZIO, E ;
ADOBBATI, L ;
FERRANTE, C ;
PELLEGRINI, G ;
SCARLATO, G .
ANNALS OF NEUROLOGY, 1987, 21 (06) :564-572
[8]   PARTIAL CYTOCHROME-OXIDASE (AA3) DEFICIENCY IN CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA - HISTOCHEMICAL AND BIOCHEMICAL-STUDIES [J].
BYRNE, E ;
DENNETT, X ;
TROUNCE, I ;
HENDERSON, R .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1985, 71 (2-3) :257-271
[9]  
CLAYTON DA, 1984, ANNU REV BIOCHEM, V53, P573
[10]   A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].
FEINBERG, AP ;
VOGELSTEIN, B .
ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13