Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
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- 作者：D. Natera-de Benitoa ; daninatera@hotmail.com" class="auth_mail" title="E-mail the corresponding author ; M. Bestué ; b ; J.J. Vilchezc ; T. Evangelistad ; A. Tö ; pfd ; A. Garcí ; a-Ribese ; M.J. Trujillo-Tiebasf ; M. Garcí ; a-Hoyosg ; C. Ortezh ; A. Camachoi ; E. Jimé ; nezj ; M. Duslk ; A. Abichtk ; l ; H. Lochmü ; llerd ; J. Colomerh ; 1 ; A. Nascimentoh ; 1
- 关键词：Rapsyn ; Congenital myasthenic syndrome ; Congenital myasthenia ; Neuromuscular junction ; Pyridostigmine ; 3 ; 4-diaminopyridine
- 刊名：Neuromuscular Disorders
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：26
- 期：2
- 页码：153-159
- 全文大小：961 K
文摘
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A description of clinical and molecular findings in ten RAPSN-related CMS patients is presented.
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Phenotype is characterized by ptosis, bulbar symptoms, neck and proximal limb weakness.
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Symptoms during exacerbations are age-related and continue to occur during adulthood.
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Three novel mutations were identified.
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Genotype–phenotype correlation was not found.