MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism

OBJECTIVE: To identify the phenotypic, neuroimaging, and genotype-phenotype expression of MYORG mutations. METHODS: Using next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal recessive or absent family history that were...

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Detalles Bibliográficos
Autores principales: Chelban, Viorica, Carecchio, Miryam, Rea, Gillian, Bowirrat, Abdalla, Kirmani, Salman, Magistrelli, Luca, Efthymiou, Stephanie, Schottlaender, Lucia, Vandrovcova, Jana, Salpietro, Vincenzo, Salsano, Ettore, Pareyson, Davide, Chiapparini, Luisa, Jan, Farida, Ibrahim, Shahnaz, Khan, Fatima, Qarnain, Zul, Groppa, Stanislav, Bajaj, Nin, Balint, Bettina, Bhatia, Kailash P., Lees, Andrew, Morrison, Patrick J., Wood, Nicholas W., Garavaglia, Barbara, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073457/
https://www.ncbi.nlm.nih.gov/pubmed/32211515
http://dx.doi.org/10.1212/NXG.0000000000000399

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