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

一种新的 DOK7 突变导致先天性肌无力综合征伴肢体束带无力 ： 三个家庭成员的病例系列。

• 影响指数: 3.776
• 发表时间: May 2021
• 来源期刊: Heliyon
• DOI: 10.1016/j.heliyon.2021.e06869
• PMID: 34027146
• 文章类型: Case Reports
• 作者列表: Alsallum MS,Alshareef A,Abuzinadah AR,Bamaga AK,Dallol A

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

Abstract

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.

摘要

先天性肌无力综合征（CMS）是一组影响神经肌肉终板的异质性疾病。CMS有相当不同的表型表现，发病时间从婴儿期早期到成年后期。这里,我们报告了一例由于一个新的DOK7突变导致的CMS病例，一名28岁的男子和他的两个姐妹，有纯粹的四肢腰带无力的人。DOK7CMS有不同的演示文稿。通常,发病发生在上睑下垂的儿童期，延髓症状,行走困难,弱点,和步态异常。该案例揭示了一种具有CMS独特表现的新型DOK7基因突变，并提供了对其独特表型表现的见解。