COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review

Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically n...

Descripción completa

Detalles Bibliográficos
Autores principales: Al-Muhaizea, Mohammad A., Al-Mobarak, Sulaiman Bazee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter Open 2017
Materias:
Regular Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518714/
https://www.ncbi.nlm.nih.gov/pubmed/28744372
http://dx.doi.org/10.1515/tnsci-2017-0011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518714/
https://www.ncbi.nlm.nih.gov/pubmed/28744372
http://dx.doi.org/10.1515/tnsci-2017-0011

Ejemplares similares