Article

Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes

2024-01-31

Abstract excerpt

Respiratory insufficiency can be a presenting symptom of Congenital Myasthenic Syndromes (CMS) but is rarely recognized as such. CMS result from failure of the neuromuscular transmission secondary to gene mutations affecting the neuromuscular junction structure and function. A core symptom is muscle weakness that worsens with physical exertion. We describe five children who experienced severe to life threatening e...

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Literature Corpus work: c241c885-89d8-56ab-a9e7-24fc35d28cc6
DOI: 10.22541/au.170666403.38769822/v1

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