Novel LG1 Mutations in Agrin Causing Congenital Myasthenia Syndrome |
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| Authors: | Ping Xia Fei Xie Zhi-Jie Zhou Wen Lv |
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| Affiliation: | 1.Department of Neurology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, China; 2.Department of Orthopaedic Surgery, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, China |
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| Abstract: | The patient had suffered from both proximal and distal limb weakness since her early childhood, without the involvement of ocular or respiratory muscles. Repetitive nerve stimulation (RNS) at 3 Hz showed significant decrement in the area and amplitude of the compound muscle action potential (CMAP) on the right abductor digiti minimi (26%) and trapezius (17%). Whole-exon sequencing revealed two novel heterozygous mutations (p.Q1406Rfs*29 and p.R1521H) in the LG1 domain of agrin, which were deemed likely pathogenic for congenital myasthenic syndromes (CMS) according to a bioinformatics analysis. The patient showed remarkable improvement after treatment with salbutamol. This case expanded the mutation spectrum of AGRN. |
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| Keywords: | AGRN congenital myasthenic syndromes compound heterozygous mutation |
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