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Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies

The C9orf72 genetic mutation is the most common cause of familial frontotemporal dementia (FTD) and motor neuron disease (MND). Previous family studies suggest that while some common clinical features may distinguish gene carriers from sporadic patients, the clinical features, age of onset and disea...

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Detalles Bibliográficos
Autores principales: Foxe, David, Elan, Elle, Burrell, James R., Leslie, Felicity V. C., Devenney, Emma, Kwok, John B., Halliday, Glenda M., Hodges, John R., Piguet, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6129762/
https://www.ncbi.nlm.nih.gov/pubmed/30233460
http://dx.doi.org/10.3389/fpsyg.2018.01615

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