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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-06-01
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Series: | Acta Neuropathologica Communications |
Online Access: | https://doi.org/10.1186/s40478-023-01582-1 |