Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

OBJECTIVE: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype–phenotype correlations in patients with homozygous or compound heterozygous sequence variants...

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Detalles Bibliográficos
Autores principales: Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R., Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B., Roda, Ricardo H., Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001803/
https://www.ncbi.nlm.nih.gov/pubmed/27606357
http://dx.doi.org/10.1212/NXG.0000000000000098

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001803/
https://www.ncbi.nlm.nih.gov/pubmed/27606357
http://dx.doi.org/10.1212/NXG.0000000000000098

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