Article
Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation.
Neurology - 1 Oct 1991
Garavaglia B, Uziel G, Dworzak F, Carrara F, DiDonato S
Abstract excerpt
Two boys from different families had primary carnitine deficiency: one had cardiomyopathy and myopathy, and the other had hypoglycemia and myopathy but no cardiomyopathy. Uptake of carnitine by cultured fibroblasts was negligible in both patients. Vmax for carnitine transport was reduced to 50% o...
Topics
- Cardiomyopathies
- Carnitine
- Child
- Child, Preschool
- Genetic Variation
- Heterozygote
- Humans
- Male
- Phenotype