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

Abstract 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 affec...

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Bibliographic Details
Main Authors: Anastasia Gromova, Byeonggu Cha, Erica M. Robinson, Laura M. Strickland, Nhat Nguyen, Mai K. ElMallah, Constanza J. Cortes, Albert R. La Spada
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Acta Neuropathologica Communications
Online Access:https://doi.org/10.1186/s40478-023-01582-1