ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-...

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Publicado en:Eur J Hum Genet
Main Authors: Filosto, Massimiliano, Aureli, Massimo, Castellotti, Barbara, Rinaldi, Fabrizio, Schiumarini, Domitilla, Valsecchi, Manuela, Lualdi, Susanna, Mazzotti, Raffaella, Pensato, Viviana, Rota, Silvia, Gellera, Cinzia, Filocamo, Mirella, Padovani, Alessandro
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110045/
https://ncbi.nlm.nih.gov/pubmed/27026573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.28
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