What is it about?
A study aims to identify the phenotypic variability in congenital myasthenia associated with c.1327delG mutation in the CHRNE gene.
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Why is it important?
In this paper we present the largest phenotypic analysis to date of a cohort of patients carrying the pathogenic variant c.1327delG in the CHRNE gene, leading to CHRNE-CMS.
Perspectives
The article could be valuable to clinicians and researchers in the field of neuromuscular disorders, as it highlights the variability in clinical presentations of a genetically homogenous condition.
Kristina Kastreva
University Hospital Alexandrovska, Sofia, Bulgaria
Read the Original
This page is a summary of: Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit, Journal of Neuromuscular Diseases, September 2024, IOS Press,
DOI: 10.3233/jnd-230235.
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