FATAL INFANTILE MITOCHONDRIAL MYOPATHY AND RENAL DYSFUNCTION DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY

被引:193
作者
DIMAURO, S
MENDELL, JR
SAHENK, Z
BACHMAN, D
SCARPA, A
SCOFIELD, RM
REINER, C
机构
[1] OHIO STATE UNIV, DEPT PATHOL, COLUMBUS, OH 43210 USA
[2] OHIO STATE UNIV, DIV NEUROL, COLUMBUS, OH 43210 USA
[3] UNIV PENN, JOHNSON RES FDN, PHILADELPHIA, PA 19104 USA
[4] UNIV PENN, DEPT BIOCHEM & BIOPHYS, PHILADELPHIA, PA 19104 USA
关键词
D O I
10.1212/WNL.30.8.795
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:795 / 804
页数:10
相关论文
共 40 条
[1]  
BASHFORD CL, FEBS LETT
[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]   HISTOGRAPHIC ANALYSIS OF HUMAN MUSCLE BIOPSIES WITH REGARD TO FIBER TYPES .4. CHILDRENS BIOPSIES [J].
BROOKE, MH ;
ENGEL, WK .
NEUROLOGY, 1969, 19 (06) :591-+
[4]  
Carpenter S, 1975, Recent advances in myology, P374
[5]  
CHANCE B, 1966, J BIOL CHEM, V241, P4567
[6]  
CHEW EC, 1977, ANN CLIN LAB SCI, V7, P29
[7]   MEGACONIAL MITOCHONDRIA OBSERVED IN A CASE OF CHRONIC POLYMYOSITIS [J].
CHOU, SM .
ACTA NEUROPATHOLOGICA, 1969, 12 (01) :68-+
[8]   MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY AND MYOGLOBINURIA [J].
DIMAURO, S ;
DIMAURO, PMM .
SCIENCE, 1973, 182 (4115) :929-931
[9]  
DIMAURO S, 1976, J NEUROL SCI, V27, P217, DOI 10.1016/0022-510X(76)90063-0
[10]   DEBRANCHER DEFICIENCY - NEUROMUSCULAR DISORDER IN 5 ADULTS [J].
DIMAURO, S ;
HARTWIG, GB ;
HAYS, A ;
EASTWOOD, AB ;
FRANCO, R ;
OLARTE, M ;
CHANG, M ;
ROSES, AD ;
FETELL, M ;
SCHOENFELDT, RS ;
STERN, LZ .
ANNALS OF NEUROLOGY, 1979, 5 (05) :422-436