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Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

Autosomal dominant missense mutations in BICD2 cause Spinal Muscular Atrophy Lower Extremity Predominant 2 (SMALED2), a developmental disease of motor neurons. BICD2 is a key component of the cytoplasmic dynein/dynactin motor complex, which in axons drives the microtubule-dependent retrograde transp...

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Detalles Bibliográficos
Autores principales:	Rossor, Alexander M., Sleigh, James N., Groves, Michael, Muntoni, Francesco, Reilly, Mary M., Hoogenraad, Casper C., Schiavo, Giampietro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076953/ https://www.ncbi.nlm.nih.gov/pubmed/32183910 http://dx.doi.org/10.1186/s40478-020-00909-6

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