Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review

BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant...

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Detalles Bibliográficos
Autores principales: Lin, Hui-Chi, Lin, Chin-Hsien, Chen, Pei-Lung, Cheng, Shih-Jung, Chen, Pei-Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604294/
https://www.ncbi.nlm.nih.gov/pubmed/28923025
http://dx.doi.org/10.1186/s12883-017-0966-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604294/
https://www.ncbi.nlm.nih.gov/pubmed/28923025
http://dx.doi.org/10.1186/s12883-017-0966-3

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