Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype-Reference-Cited by-同舟云学术

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Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

Published:2013-03-12 Issue:2 Volume:85 Page:127-137
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Shibbani K.¹,Fahed A.C.²,Al-Shaar L.³,Arabi M.⁴,Nemer G.¹,Bitar F.¹⁴,Majdalani M.⁴

Affiliation:

1. Department of Biochemistry and Molecular Genetics; American University of Beirut; Beirut Lebanon

2. Department of Genetics; Harvard Medical School; Boston MA USA

3. Vascular Medicine Program; American University of Beirut; Beirut Lebanon

4. Department of Pediatrics and Adolescent Medicine; American University of Beirut Medical Center; Beirut Lebanon

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene;Lamhonwah;Biochem Biophys Res Commun,1998

2. Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation;Yamak;Clin Genet,2007

3. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy;Lamhonwah;Am J Med Genet,2002

4. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter;Nezu;Nat Genet,1999

5. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy;Tein;Pediatr Res,1990

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