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

Aoki, J; Yasuno, T; Sugie, H; Kido, H; Nishino, I; Shigematsu, Y; Kanazawa, M; Takayanagi, M; Kumami, M; Endo, K; Kaneoka, H; Yamaguchi, M; Fukuda, T; Yamamoto, T

Aoki, J; Yasuno, T; Sugie, H; Kido, H; Nishino, I; Shigematsu, Y; Kanazawa, M; Takayanagi, M; Kumami, M; Endo, K; Kaneoka, H; Yamaguchi, M; Fukuda, T; Yamamoto, T.

Affiliation

Aoki J; Department of Neurology, Fukushima Medical University, Hikarigaoka, Fukushima, Japan. aojyun@fmu.ac.jp

Neurology ; 69(8): 804-6, 2007 Aug 21.

Article in En | MEDLINE | ID: mdl-17709715

Subject(s)

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

Search on Google

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Carnitine O-Palmitoyltransferase / Metabolic Diseases / Metabolism, Inborn Errors Type of study: Risk_factors_studies Limits: Adult / Female / Humans Country/Region as subject: Asia Language: En Journal: Neurology Year: 2007 Document type: Article

Search on Google

XML

PubMed Links