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Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy

Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the androgen receptor (AR) gene. It is thought that the nuclear translocation of abnormal AR proteins following binding to testosterone trigger...

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Principais autores: Haruna Akanuma, Suguru Kadowaki, Kazuaki Kanai
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2024-02-01
Serier:Frontiers in Neurology
Fag:
testosterone
spinal and bulbar muscular atrophy
Klinefelter syndrome
androgen replacement therapy
leuprorelin
Online adgang:https://www.frontiersin.org/articles/10.3389/fneur.2024.1340694/full
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