https://www.selleckchem.com/pr....oducts/sb-505124.htm
Congenital myasthenic syndrome (CMS) caused by mutations in MUSK is very rare and the genotype-phenotype relationship in MUSK related CMS is still unclear. Here we identified two patients carrying a homozygous hotspot mutation, c.308A G in MUSK from a Chinese family. Both of them presented predominant bulbar weakness and atrophy of bilateral temporalis and masticatory muscles. To address the phenotype-genotype relationship, a total of 27 MUSK related CMS patients were reviewed. Patients with nonsense, frameshift or splicing mutat
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