Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

BACKGROUND: Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or transient muscle fatigability and weakness. To date, 32 genes were found to be involved in CMSs with autosomal dominant and/or recessive inheritance...

Descripción completa

Detalles Bibliográficos
Autores principales: El Kadiri, Youssef, Ratbi, Ilham, Sefiani, Abdelaziz, Lyahyai, Jaber
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354381/
https://www.ncbi.nlm.nih.gov/pubmed/35932018
http://dx.doi.org/10.1186/s12883-022-02822-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354381/
https://www.ncbi.nlm.nih.gov/pubmed/35932018
http://dx.doi.org/10.1186/s12883-022-02822-y

Ejemplares similares