Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency

Author:

Yasuno Tetsuhiko,Osafune Kenji,Sakurai Hidetoshi,Asaka Isao,Tanaka Akihito,Yamaguchi SeijiORCID,Yamada KenjiORCID,Hitomi Hirofumi,Arai Sayaka,Kurose Yuko,Higaki Yasuki,Sudo Mizuki,Ando Soichi,Nakashima Hitoshi,Saito TakaoORCID,Kaneoka Hidetoshi

Funder

Central Research Institute of Fukuoka University

Japan Society for Promotion of Science

Takahashi Industrial and Economic Research Foundation

Kaibara Morikazu Medical Science Promotion Foundation

Japan Society for the Promotion of Science

Japan Science and Technology Agency

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference24 articles.

1. Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review;Faigel;J. Am. Coll. Health,1995

2. Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmitoyl transferase deficiency;Kelly;Pediatric,1989

3. Recurrent rhabdomyolysis associated with influenza-like illness in a weight-lifter;Keverline;J. Sports Med. Phys. Fitness,1998

4. Carnitine palmitoyltransferase deficiencies;Bonnefont;Mol. Genet. Metab.,1999

5. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency;Isackson;Mol. Genet. Metab.,2006

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