Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome

ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman Syndrome (CDS). CDS is a rare autosomal recessive lipid storage disease, charac...

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Veröffentlicht in:Eur J Transl Myol
Hauptverfasser: Tavian, Daniela, Durdu, Murat, Angelini, Corrado, Torre, Enza, Missaglia, Sara
Format: Artigo
Sprache:Inglês
Veröffentlicht: PAGEPress Publications, Pavia, Italy 2021
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8274219/
https://ncbi.nlm.nih.gov/pubmed/33985321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/ejtm.2021.9796
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