[Hypotonia and convulsive encephalopathy with lipid myopathy and palmitoyl-carnitine transferase deficiency. A new entity?].
D000217:Acyltransferases / Q000172:deficiency*; D001927:Brain Diseases / Q000209:etiology*; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism; D012640:Seizures / Q000209:etiology
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase
Hypotonie et encéphalopathie convulsivante avec myopathie lipidique et déficit en palmityl carnitine transférase (PCT). Entité nouvelle?