一种新的导致四肢带状先天性肌无力综合征的DOK7突变

A. Reynolds, A. Lin, Leo H. Wang
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引用次数: 0

摘要

我们报告了5例拉丁裔腰束型无力患者,其中4例为姐妹,1例无血缘关系。重复神经刺激在所有病例中均表现出明显的下降。先天性肌无力综合征的靶向基因检测显示,每个病例都有一个已知的DOK7致病突变,并且在所有5例病例中,还发现了一个新的DOK7外显子c.94G> a错义突变;提供了强有力的证据表明这种突变是致病的。与dok7相关的先天性肌无力综合征通常缺乏眼球受累,并可能表现为肢带无力,类似于肢带肌营养不良。
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A novel DOK7 mutation causing limb-girdle congenital myasthenic syndrome
We report a case series of 5 Latino patients with limb-girdle pattern weakness, four patients are sisters, with one patient unrelated. Repetitive nerve stimulation showed a significant decrement in all cases. Targeted genetic testing for congenital myasthenic syndromes demonstrated a known DOK7 pathogenic mutation in each case, and in all five cases also revealed a novel DOK7 missense mutation in exon 7 with c.94G>A; providing strong evidence this mutation is pathogenic. DOK7-related congenital myasthenic syndrome often lacks oculobulbar involvement, and may present with limb-girdle weakness, mimicking limb-girdle muscular dystrophy.
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