The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene

• Published in: Neurology Vol. 70; no. 5; p. 402
• Main Authors: Szlago, M, Gallus, G N, Schenone, A, Patiño, M E, Sfaelo, Z, Rufa, A, Da Pozzo, P, Cardaioli, E, Dotti, M T, Federico, A
• Format: Journal Article
• Language: English
• Published: United States 29.01.2008
• Subjects: Adolescent; Argentina; Brain - enzymology; Brain - pathology; Brain - physiopathology; Cholestanetriol 26-Monooxygenase - genetics; Cholestanol - blood; Cholesterol - metabolism; DNA Mutational Analysis; Female; Genetic Markers - genetics; Genetic Predisposition to Disease - genetics; Genetic Testing; Genotype; Humans; Intellectual Disability - enzymology; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Magnetic Resonance Imaging; Male; Mitochondria - enzymology; Mitochondria - genetics; Mutation - genetics; Tremor - enzymology; Tremor - genetics; Tremor - physiopathology; Xanthomatosis, Cerebrotendinous - diagnosis; Xanthomatosis, Cerebrotendinous - genetics; Xanthomatosis, Cerebrotendinous - physiopathology
• ISSN: 1526-632X
• DOI: 10.1212/01.wnl.0000280460.28039.3d