Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Patients with SBMA have weakness, atrophy, and fasciculations in the bulbar and extremity muscles. Individuals with CAG repeat lengths greate...

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Detalhes bibliográficos
Publicado no:Neuromuscul Disord
Main Authors: Grunseich, Christopher, Kats, Ilona R., Bott, Laura C., Rinaldi, Carlo, Kokkinis, Angela, Fox, Derrick, Chen, Ke-lian, Schindler, Alice B., Mankodi, Ami K., Shrader, Joseph A., Schwartz, Daniel P., Lehky, Tanya J., Liu, Chia-Ying, Fischbeck, Kenneth H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4252652/
https://ncbi.nlm.nih.gov/pubmed/25047668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2014.06.441
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