Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting with deme...

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Hauptverfasser: Smith, Katherine R., Dahl, Hans-Henrik M., Canafoglia, Laura, Andermann, Eva, Damiano, John, Morbin, Michela, Bruni, Amalia C., Giaccone, Giorgio, Cossette, Patrick, Saftig, Paul, Grötzinger, Joachim, Schwake, Michael, Andermann, Frederick, Staropoli, John F., Sims, Katherine B., Mole, Sara E., Franceschetti, Silvana, Alexander, Noreen A., Cooper, Jonathan D., Chapman, Harold A., Carpenter, Stirling, Berkovic, Samuel F., Bahlo, Melanie
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2013
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3596852/
https://ncbi.nlm.nih.gov/pubmed/23297359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds558
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