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

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 collagen‐like tail s...

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Detalles Bibliográficos
Autores principales: Mohammadi, Mohammad Farid, Fateh, Sahand Tehrani, Aghajani, Hadi, Bahramy, Afshin, Zaheryani, Seyed Mohammad Salar, Behroozi, Javad, Kahani, Seyyed Mohammad, Mohammadi, Pouria, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593973/
https://www.ncbi.nlm.nih.gov/pubmed/37881193
http://dx.doi.org/10.1002/ccr3.8062

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