HUMAN CULTURED MYOBLASTS - A MODEL FOR THE DIAGNOSIS OF MITOCHONDRIAL DISEASES

被引：5

作者：

DUMOULIN, R

MANDON, G

COLLOMBET, JM

BLOND, JL

CARRIER, H

GODINOT, C

FLOCARD, F

VILLARD, J

GUIBAUD, P

MATHIEU, M

MOUSSON, B

机构：

[1] HOP DEBROUSSE, CTR ETUD MALAD METAB,29 RUE SOEUR BOUVIER, F-69322 LYON 05, FRANCE

[2] HOP DEBROUSSE, SERV PEDIAT & GENET, F-69322 LYON 05, FRANCE

[3] FAC ALEXIS CARREL, INSERM,U52, F-69372 LYON, FRANCE

[4] UNIV LYON 1, LBTM,CNRS, F-69622 VILLEURBANNE, FRANCE

[5] HOP INSTRUCT ARMEES DESGENETTES, SERV NEUROL, F-69275 LYON 03, FRANCE

[6] HOP CANTONAL UNIV GENEVA, SERV MED 2, F-1211 Geneva 14, SWITZERLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1993年 / 16卷 / 03期

关键词：

D O I：

10.1007/BF00711677

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report five patients (aged from 4 to 31 years) with mitochondrial defects diagnosed by classical investigations of skeletal muscle biopsies: carnitine palmitoyl transferase II (CPT II), 2-ketoglutarate dehydrogenase (2-KGD) and respiratory chain (3243 mitochondrial DNA mutation) deficiencies. Myoblast cultures have been established from each of these five biopsies. We compared results in skeletal muscle and in cultured myoblasts.

引用

页码：545 / 547

页数：3

共 4 条

[1] INFANTILE FORM OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOMUSCULAR SYMPTOMS AND SUDDEN-DEATH - PHYSIOPATHOLOGICAL APPROACH TO CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCIES [J].