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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.
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1987
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1032239/ https://ncbi.nlm.nih.gov/pubmed/3655814 |
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