A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.

Aoki, J

A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. [electronic resource] - Neurology Aug 2007 - 804-6 p. digital

Publication Type: Case Reports; Journal Article

1526-632X

10.1212/01.wnl.0000267665.44477.85 doi


Adult
Age of Onset
Amino Acid Substitution--genetics
Asian People--genetics
Carnitine--blood
Carnitine O-Palmitoyltransferase--deficiency
DNA Mutational Analysis
Female
Genetic Markers--genetics
Genotype
Homozygote
Humans
Japan--ethnology
Metabolic Diseases--enzymology
Metabolism, Inborn Errors--enzymology
Muscle, Skeletal--metabolism
Mutation--genetics
Phenotype
Rhabdomyolysis--enzymology