Carregant...

Autosomal recessive lipid storage myopathy (probable carnitine deficiency).

Two sisters died at the age of 17 and 19, respectively, of a myopathy with exacerbations and remissions characterised by pain and weakness of muscles which ended fatally with lactic acidosis and respiratory failure. The clinical picture was very similar to that described in some cases of carnitine d...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Almog, C, Fried, K, Reif, R, Zieghelboim, J, Lewinsohn, G
Format: Artigo
Idioma:Inglês
Publicat: 1979
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012589/
https://ncbi.nlm.nih.gov/pubmed/537015
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!