Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review

BACKGROUND: Phospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodegenerative disorders with variable ages of onset. The genotype-phenotype correlation is not well-established. We aim to describe three adult patients with PLAN and combi...

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Detalles Bibliográficos
Autores principales: Chu, Yung-Tsai, Lin, Han-Yi, Chen, Pei-Lung, Lin, Chin-Hsien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076921/
https://www.ncbi.nlm.nih.gov/pubmed/32183746
http://dx.doi.org/10.1186/s12883-020-01684-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076921/
https://www.ncbi.nlm.nih.gov/pubmed/32183746
http://dx.doi.org/10.1186/s12883-020-01684-6

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