title: Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.
abstract: A case of carnitine palmitoyl transferase deficiency presenting in a 72 year old woman with the clinical picture of ophthalmoplegia plus other muscle weakness is reported. Histological and ultrastructural examination showed the features of a mitochondrial myopathy.
authors: Department of Pathology, Midland Centre for Neurosurgery and Neurology, Smethwick, UK.
authors: M P
authors: MP
authors: Carey
authors: K
authors: K
authors: Poulton
authors: C
authors: C
authors: Hawkins
authors: R P
authors: RP
authors: Murphy
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D000368:Aged; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000201:enzymology* / Q000473:pathology; D009886:Ophthalmoplegia / Q000201:enzymology
chemical_list: D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase