由MUSK基因突变引起的先天性肌无力综合征。

IF 2.4 Q2 CLINICAL NEUROLOGY

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

Antonia McLean, Ian Wilson

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引用次数: 0

摘要

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。

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Congenital myasthenic syndrome from a MUSK gene mutation.

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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来源期刊

PRACTICAL NEUROLOGY Medicine-Neurology (clinical)

CiteScore

3.70

自引率

3.60%

发文量

113

期刊介绍： The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.