A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report

BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30–50 % of genetically...

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Detalles Bibliográficos
Autores principales: Chang, Thashi, Cossins, Judith, Beeson, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055717/
https://www.ncbi.nlm.nih.gov/pubmed/27717316
http://dx.doi.org/10.1186/s12883-016-0716-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055717/
https://www.ncbi.nlm.nih.gov/pubmed/27717316
http://dx.doi.org/10.1186/s12883-016-0716-y

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