Article
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
Nature genetics - 1 Jan 1999
Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A
Abstract excerpt
Primary systemic carnitine deficiency (SCD; OMIM 212140) is an autosomal recessive disorder characterized by progressive cardiomyopathy, skeletal myopathy, hypoglycaemia and hyperammonaemia. SCD has also been linked to sudden infant death syndrome. Membrane-physiological studies have suggested a...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Carnitine
- Carrier Proteins
- DNA, Complementary
- Female
- Humans
- Ions
- Male
- Membrane Proteins
- Mice
- Molecular Sequence Data
- Mutation