Human cultured myoblasts: a model for the diagnosis of mitochondrial diseases.
Dumoulin
R
R
Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Mandon
G
G
Collombet
J M
JM
Blond
J L
JL
Carrier
H
H
Godinot
C
C
Flocard
F
F
Villard
J
J
Guibaud
P
P
Mathieu
M
M
D000293:Adolescent; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency; D002478:Cells, Cultured; D002648:Child; D004272:DNA, Mitochondrial / Q000378:metabolism; D005260:Female; D006801:Humans; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency; D008297:Male; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology*; D017354:Point Mutation
D004272:DNA, Mitochondrial; D007655:Ketoglutarate Dehydrogenase Complex; D002334:Carnitine O-Palmitoyltransferase