KEARNS-SAYRE SYNDROME IN TWINS - LETHAL DOMINANT MUTATION OR ACQUIRED DISEASE

被引:21
作者
ROWLAND, LP
HAUSMANOWAPETRUSEWICZ, I
BARDURSKA, B
WARBURTON, D
NIBROJDOBOSZ, I
DIMAURO, S
PALLAI, M
JOHNSON, WG
机构
[1] COLUMBIA PRESBYTERIAN MED CTR,H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY & RELATED DIS,NEW YORK,NY 10032
[2] MED ACAD WARSAW,DEPT NEUROL,PL-02032 WARSAW,POLAND
关键词
D O I
10.1212/WNL.38.9.1399
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:1399 / 1402
页数:4
相关论文
共 28 条
[1]   HIRANO BODIES IN THE AXON OF PERIPHERAL-NERVES IN A CASE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MULTISYSTEMIC INVOLVEMENTS [J].
ATSUMI, T ;
YAMAMURA, Y ;
SATO, T ;
IKUTA, F .
ACTA NEUROPATHOLOGICA, 1980, 49 (02) :95-100
[2]  
BARRE JA, 1947, CONFIN NEUROL, V8, P330
[3]  
BASTIAENSEN LAK, 1978, ACTA NEUROL SCAND, V58, P9
[4]   KEARNS SYNDROME OR KEARNS DISEASE - FURTHER EVIDENCE OF A GENUINE ENTITY IN A CASE WITH UNCOMMON FEATURES [J].
BASTIAENSEN, LAK ;
NOTERMANS, SLH ;
RAMAEKERS, CH ;
VANDIJKE, BJ ;
JOOSTEN, EMG ;
JASPAR, HHJ ;
STADHOUDERS, AM ;
BELJAARS, CTE .
OPHTHALMOLOGICA, 1982, 184 (01) :40-50
[5]   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
[6]   MITOCHONDRIAL STUDIES IN KEARNS-SAYRE SYNDROME - NORMAL RESPIRATORY-CHAIN FUNCTION WITH ABSENCE OF A MITOCHONDRIAL TRANSLATION PRODUCT [J].
BYRNE, E ;
MARZUKI, S ;
SATTAYASAI, N ;
DENNETT, X ;
TROUNCE, I .
NEUROLOGY, 1987, 37 (09) :1530-1534
[7]  
Cerri C, 1983, MITOCHONDRIAL PATHOL, P141
[8]  
DAROFF RB, 1983, NEUROLOGY NEUROSURGE, V4, P1
[9]  
EAGLE RC, 1982, OPHTHALMOLOGY, V89, P1433
[10]   MITOCHONDRIAL CYTOPATHY - A MULTISYSTEM DISORDER WITH RAGGED RED FIBERS ON MUSCLE BIOPSY [J].
EGGER, J ;
LAKE, BD ;
WILSON, J .
ARCHIVES OF DISEASE IN CHILDHOOD, 1981, 56 (10) :741-752