Autophagic vacuolar myopathy is a common feature of CLN3 disease

OBJECTIVE: The neuronal ceroid lipofuscinoses (NCL) are genetic degenerative disorders of brain and retina. NCL with juvenile onset (JNCL) is genetically heterogeneous but most frequently caused by mutations of CLN3. Classical juvenile CLN3 includes a rare protracted form, which has previously been...

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Detalles Bibliográficos
Autores principales: Radke, Josefine, Koll, Randi, Gill, Esther, Wiese, Lars, Schulz, Angela, Kohlschütter, Alfried, Schuelke, Markus, Hagel, Christian, Stenzel, Werner, Goebel, Hans H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243389/
https://www.ncbi.nlm.nih.gov/pubmed/30480032
http://dx.doi.org/10.1002/acn3.662

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243389/
https://www.ncbi.nlm.nih.gov/pubmed/30480032
http://dx.doi.org/10.1002/acn3.662

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