Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.

AUTOR(ES)
RESUMO

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.

Documentos Relacionados