COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum

Abstract Background Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive forms of synaptic congenital myas...

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Bibliographic Details
Main Authors: Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi
Format: Article
Language:English
Published: BMC 2024-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Congenital myasthenic syndrome (CMS)
COLQ gene
Acetylcholinesterase-associated collagen protein
Muscle weakness
Cholinesterase inhibitors
Online Access:https://doi.org/10.1186/s13023-024-03116-x

Internet

https://doi.org/10.1186/s13023-024-03116-x

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