HUMAN CULTURED MYOBLASTS - A MODEL FOR THE DIAGNOSIS OF MITOCHONDRIALDISEASES

Authors
DUMOULIN R MANDON G COLLOMBET JM BLOND JL CARRIER H GODINOT C FLOCARD F VILLARD J GUIBAUD P MATHIEU M MOUSSON B
Citation
R. Dumoulin et al., HUMAN CULTURED MYOBLASTS - A MODEL FOR THE DIAGNOSIS OF MITOCHONDRIALDISEASES, Journal of inherited metabolic disease, 16(3), 1993, pp. 545-547
Citations number
4
Categorie Soggetti
Endocrynology & Metabolism
Journal title
Journal of inherited metabolic disease → ACNP
ISSN journal
01418955
Volume
16
Issue
3
Year of publication
1993
Pages
545 - 547
Database
ISI
SICI code
0141-8955(1993)16:3<545:HCM-AM>2.0.ZU;2-X
Abstract
We report five patients (aged from 4 to 31 years) with mitochondrial d efects diagnosed by classical investigations of skeletal muscle biopsi es: carnitine palmitoyl transferase II (CPT II), 2-ketoglutarate dehyd rogenase (2-KGD) and respiratory chain (3243 mitochondrial DNA mutatio n) deficiencies. Myoblast cultures have been established from each of these five biopsies. We compared results in skeletal muscle and in cul tured myoblasts.