The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative diseases comprising Batten and other related diseases plus numerous variants. They are characterized by progressive neuronal cell death. The CLN6 gene was recently identified, mutations in wh
✦ LIBER ✦
Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6
✍ Scribed by Todor Arsov; Katherine R. Smith; John Damiano; Silvana Franceschetti; Laura Canafoglia; Catherine J. Bromhead; Eva Andermann; Danya F. Vears; Patrick Cossette; Sulekha Rajagopalan; Alan McDougall; Vito Sofia; Michael Farrell; Umberto Aguglia; Andrea Zini; Stefano Meletti; Michela Morbin; Saul Mullen; Frederick Andermann; Sara E. Mole; Melanie Bahlo; Samuel F. Berkovic
- Book ID
- 113423029
- Publisher
- American Society of Human Genetics
- Year
- 2011
- Tongue
- English
- Weight
- 333 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0002-9297
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