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Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the C.1327delg Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

Kristina Kastreva,Teodora Chamova,Stanislava Blagoeva,Stoyan Bichev,Violeta Mihaylova,Stefanie Meyer,Rachel Thompson,Sylvia Cherninkova,Velina Guergueltcheva,Hanns Lochmuller,Ivailo Tournev

JOURNAL OF NEUROMUSCULAR DISEASES（2024）

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Key words
Myasthenic syndromes,fatigable weakness,CHRNE gene
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