X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease

X-linked spinal and bulbar muscular atrophy (SBMA; Kennedy's disease) is a rare neuromuscular disorder characterized by adult-onset proximal muscle weakness and lower motor neuron degeneration. SBMA was the first human disease found to be caused by a repeat expansion mutation, as affected patie...

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Detalles Bibliográficos
Autores principales: Gromova, Anastasia, Cha, Byeonggu, Robinson, Erica M., Strickland, Laura M., Nguyen, Nhat, ElMallah, Mai K., Cortes, Constanza J., La Spada, Albert R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10239133/
https://www.ncbi.nlm.nih.gov/pubmed/37269008
http://dx.doi.org/10.1186/s40478-023-01582-1

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