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Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.
  1. M P Carey,
  2. K Poulton,
  3. C Hawkins,
  4. R P Murphy
  1. Department of Pathology, Midland Centre for Neurosurgery and Neurology, Smethwick, UK.


    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.

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