A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings

Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a very rare recessive hereditary disorder. At the moment, ten CMS22 patients are described, with the disorder caused by nine different Loss-of-Function mutations and 14 gross deletions in the PREPL gene. The materials for our study were DNA s...

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Detalles Bibliográficos
Autores principales: Shchagina, Olga, Bessonova, Ludmila, Bychkov, Igor, Beskorovainaya, Tatiana, Poliakov, Aleksander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397044/
https://www.ncbi.nlm.nih.gov/pubmed/32707643
http://dx.doi.org/10.3390/genes11070821

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397044/
https://www.ncbi.nlm.nih.gov/pubmed/32707643
http://dx.doi.org/10.3390/genes11070821

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