FATAL CYTOCHROME-C OXIDASE-DEFICIENT MYOPATHY OF INFANCY ASSOCIATED WITH MTDNA DEPLETION - DIFFERENTIAL INVOLVEMENT OF SKELETAL-MUSCLE AND CULTURED FIBROBLASTS

被引：27

作者：

TELERMANTOPPET, N

BIARENT, D

BOUTON, JM

DEMEIRLEIR, L

ELMER, C

NOEL, S

VAMOS, E

DIMAURO, S

机构：

[1] UNIV LIBRE BRUXELLES,BRUGMANN UNIV HOSP,HOP ENFANTS,B-1050 BRUSSELS,BELGIUM

[2] VRIJE UNIV BRUSSELS,DEPT NEUROPEDIAT,B-1050 BRUSSELS,BELGIUM

[3] COLUMBIA UNIV COLL PHYS & SURG,DEPT NEUROL,NEW YORK,NY 10032

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1992年 / 15卷 / 03期

关键词：

D O I：

10.1007/BF02435967

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：323 / 326

页数：4

共 4 条

[1] CYTOCHROME-C-OXIDASE DEFICIENCY [J].

DIMAURO, S ;

LOMBES, A ;

NAKASE, H ;

MITA, S ;

FABRIZI, GM ;

TRITSCHLER, HJ ;

BONILLA, E ;

MIRANDA, AF ;

DEVIVO, DC ;

SCHON, EA .

PEDIATRIC RESEARCH, 1990, 28 (05) :536-541

[2]

MORAES CT, 1991, AM J HUM GENET, V48, P492

[3] DIFFERENTIAL-DIAGNOSIS OF FATAL AND BENIGN CYTOCHROME-C OXIDASE-DEFICIENT MYOPATHIES OF INFANCY - AN IMMUNOHISTOCHEMICAL APPROACH [J].

TRITSCHLER, HJ ;

BONILLA, E ;

LOMBES, A ;

ANDREETTA, F ;

SERVIDEI, S ;

SCHNEYDER, B ;

MIRANDA, AF ;

SCHON, EA ;

KADENBACH, B ;

DIMAURO, S .

NEUROLOGY, 1991, 41 (02) :300-305

[4] AN AUTOSOMAL DOMINANT DISORDER WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA STARTING AT THE D-LOOP REGION [J].

ZEVIANI, M ;

SERVIDEI, S ;

GELLERA, C ;

BERTINI, E ;

DIMAURO, S ;

DIDONATO, S .

NATURE, 1989, 339 (6222) :309-311

← 1 →