A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members

Heliyon

Aysha Alshareef¹  Ahmed K. Bamaga²  Ashraf Dallol³  Ahmad R. Abuzinadah³  Mohammed S. Alsallum⁴ 

[1] Corresponding author.;Neuromuscular Unit, King Fahad Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia;King Abdulaziz University, Faculty of Medicine, King Abdulaziz University Hospital, Internal Medicine Department, Neurology Division, P.O. Box: 80200, 21589, Jeddah, Saudi Arabia;Neurology Resident, King Abdulaziz University Hospital, P.O. Box: 80200, 21589, Jeddah, Saudi Arabia;

关键词: Congenital myasthenia syndrome;    DOK7;    Limb-girdle weakness;    Sympathomimetics;   

DOI  :  

来源: DOAJ

【 摘 要 】

Congenital myasthenia syndrome (CMS) is a group of heterogeneous diseases affecting the neuromuscular endplate. CMS has a considerably different phenotypic presentations, with the onset time ranging from early infancy to late adulthood. Here, we report a case of a CMS due to a new DOK7 mutation in a 28-year-old man and two of his sisters, who have a pure limb-girdle weakness. DOK7 CMS has a varying presentation. Typically, the onset occurs in childhood with ptosis, bulbar symptoms, difficulty walking, weakness, and gait abnormality. This case sheds light on a novel DOK7 gene mutation with a unique presentation of CMS and provides insight into its unique phenotypic presentation.

【 授权许可】

Unknown