Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus–dystonia

Myoclonus–dystonia (M‐D) is a pleiotropic neuropsychiatric disorder with autosomal dominant mode of inheritance with variable severity and incomplete penetrance. Pathogenic variants in ξ‐sarcoglycan gene SGCE are the most frequently known genetic cause of M‐D with maternal imprinting, and in most ca...

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Detalles Bibliográficos
Autores principales: Chbel, Faiza, Charroute, Hicham, Boulouiz, Redouane, Hamdaoui, Hasna, Mossafa, Houssein, Benrahma, Houda, Ouldim, Karim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931306/
https://www.ncbi.nlm.nih.gov/pubmed/35340658
http://dx.doi.org/10.1002/ccr3.5568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931306/
https://www.ncbi.nlm.nih.gov/pubmed/35340658
http://dx.doi.org/10.1002/ccr3.5568

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