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Article

Novel LG1 Mutations in Agrin Causing Congenital Myasthenia Syndrome.

Internal medicine (Tokyo, Japan) - 15 Mar 2022

Xia Ping, Xie Fei, Zhou Zhi-Jie, Lv Wen

Abstract excerpt

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...

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Identifiers

PMID: 34433720
DOI: 10.2169/internalmedicine.7774-21
PMCID: PMC8987244

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