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.

Guardado en:
Detalles Bibliográficos
Autores principales: Carey, M P, Poulton, K, Hawkins, C, Murphy, R P
Formato: Artigo
Lenguaje:Inglês
Publicado: 1987
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1032239/
https://ncbi.nlm.nih.gov/pubmed/3655814
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares