Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.
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.
Carey
M P
MP
Department of Pathology, Midland Centre for Neurosurgery and Neurology, Smethwick, UK.
Poulton
K
K
Hawkins
C
C
Murphy
R P
RP
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
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase