Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

OBJECTIVE: To describe the clinical and pathologic features of a novel pedigree with heterozygous STUB1 mutation causing SCA48. METHODS: We report a large pedigree of Dutch decent. Clinical and pathologic data were reviewed, and genetic analyses (whole-exome sequencing, whole-genome sequencing, and...

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Detalles Bibliográficos
Autores principales: Mol, Merel O., van Rooij, Jeroen G.J., Brusse, Esther, Verkerk, Annemieke J.M.H., Melhem, Shamiram, den Dunnen, Wilfred F.A., Rizzu, Patrizia, Cupidi, Chiara, van Swieten, John C., Donker Kaat, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164971/
https://www.ncbi.nlm.nih.gov/pubmed/32337344
http://dx.doi.org/10.1212/NXG.0000000000000417

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164971/
https://www.ncbi.nlm.nih.gov/pubmed/32337344
http://dx.doi.org/10.1212/NXG.0000000000000417

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