Variant Late Infantile Neuronal Ceroid Lipofuscinosis ( CLN6 Gene) in Saudi Arabia

Variant Late Infantile Neuronal Ceroid Lipofuscinosis ( CLN6 Gene) in Saudi Arabia

Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three families representing the first cases from Saudi Arabia, one of them having a novel mutation in the CLN6 gene. The CLN6 -related literature i...

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Veröffentlicht in:Pediatric neurology 2009-07, Vol.41 (1), p.74-76
Hauptverfasser: Al-Muhaizea, Mohammad A., MD, Al-Hassnan, Zuhair N., MD, Chedrawi, Aziza, MD
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
Child
Child, Preschool
Errors of metabolism
Family
Female
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Medical sciences
Membrane Proteins - genetics
Metabolic diseases
Mutation
Neurology
Neuronal Ceroid-Lipofuscinoses - epidemiology
Neuronal Ceroid-Lipofuscinoses - genetics
Pediatrics
Saudi Arabia - epidemiology
Sequence Analysis, DNA
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Zusammenfassung:Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three families representing the first cases from Saudi Arabia, one of them having a novel mutation in the CLN6 gene. The CLN6 -related literature is reviewed.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2009.01.012