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Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial
M P Carey1, K Poulton, C Hawkins
1Department of Pathology, Midland Centre for Neurosurgery and Neurology, Smethwick, UK.
Journal of Neurology, Neurosurgery, and Psychiatry
|August 1, 1987
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.