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Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype–Phenotype analysis of 50 patients

✍ Scribed by Joshi, Pushpa Raj; Deschauer, Marcus; Zierz, Stephan

Book ID: 122262907
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 283 KB
Volume: 338
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2013.12.026

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## Carnitine palmitoyltransferase II (CPT II) deficiency manifests as two different clinical phenotypes: a muscular form and a hepatic form. We have investigated three nonconsanguineous Japanese patients with CPT II deficiency. Molecular analysis revealed two missense mutations, a glutamate (174)to