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Article

Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report.

Neuromuscular disorders : NMD - 1 Jan 2022

Ehrstedt Christoffer, Liu Wei-Wei, Frykholm Carina, Beeson David, Punga Anna Rostedt

Abstract excerpt

ALG2 mutations are extremely rare causes of congenital myasthenic syndromes (CMS). The clinical phenotype and treatment response is therefore not well described. We present the case of a baby who immediately after birth presented with pronounced truncal hypotonia, proximal muscle weakness and feeding difficulties. Single fibre electromyography showed neuromuscular transmission failure and salbutamol and ephedrine...

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PMID: 34980536
DOI: 10.1016/j.nmd.2021.11.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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