Congenital myasthenic syndrome from a MUSK gene mutation.

IF 2.4 Q2 CLINICAL NEUROLOGY

PRACTICAL NEUROLOGY Pub Date : 2024-05-29 DOI:10.1136/pn-2023-003945

Antonia McLean, Ian Wilson

引用次数: 0

Abstract

Slowly progressive neuromuscular symptoms often have a genetic basis. We present the case of a woman in her 40s with gradually progressive symmetrical weakness and respiratory muscle involvement. Extensive investigation found no specific cause. After a novel neuromuscular gene panel became available, we identified a mutation in the MUSK gene (muscle-specific kinase), confirming a diagnosis of congenital myasthenic syndrome. This group of rare disorders are caused by mutations in genes encoding the neuromuscular junction.

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由MUSK基因突变引起的先天性肌无力综合征。

缓慢进展的神经肌肉症状通常有遗传基础。我们提出的情况下，一名妇女在她的40岁，逐渐进行性对称无力和呼吸肌受累。广泛的调查没有发现具体原因。在一种新的神经肌肉基因面板可用后，我们发现了MUSK基因(肌肉特异性激酶)的突变，证实了先天性肌无力综合征的诊断。这组罕见的疾病是由编码神经肌肉连接处的基因突变引起的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

PRACTICAL NEUROLOGY Medicine-Neurology (clinical)

CiteScore

3.70

自引率

3.60%

发文量

113

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