Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation.
Yamak
A  A
A
Bitar
F
F
Karam
P
P
Nemer
G
G
D001483:Base Sequence; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000503:physiopathology; D002331:Carnitine / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D007223:Infant; D007861:Lebanon; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000503:physiopathology; D008297:Male; D027701:Organic Cation Transport Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D000074058:Solute Carrier Family 22 Member 5; D018487:Ventricular Dysfunction, Left / Q000235:genetics / Q000503:physiopathology
D018389:Codon, Nonsense; D018076:DNA, Complementary; D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine