Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers

Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers

Key Clinical Message Congenital myasthenic syndromes‐5 (CMS5) is a rare autosomal recessive heterogeneous disorder, caused by pathogenic variants in the COLQ that lead to skeletal muscle weakness and abnormal fatigability. The onset is usually from birth to childhood. Disease‐causing variants in the...

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Bibliographic Details
Main Authors: Mohammad Farid Mohammadi, Sahand Tehrani Fateh, Hadi Aghajani, Afshin Bahramy, Seyed Mohammad Salar Zaheryani, Javad Behroozi, Seyyed Mohammad Kahani, Pouria Mohammadi, Masoud Garshasbi
Format: Article
Language:English
Published: Wiley 2023-10-01
Series:Clinical Case Reports
Subjects:
COLQ
congenital myasthenic syndrome
qRT‐PCR
symptomatic carriers
whole‐exome sequencing
Online Access:https://doi.org/10.1002/ccr3.8062

Internet

https://doi.org/10.1002/ccr3.8062

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