医学
遗传病
疾病
牙病
多发性神经病
生物信息学
神经肌肉疾病
重症监护医学
病理
生物
作者
R. Patel,Bipasha Mukherjee-Clavin
标识
DOI:10.1055/s-0044-1791520
摘要
Abstract The inherited neuropathies are a clinically and genetically heterogeneous collection of neuropathies that neurologists, particularly neuromuscular specialists, must be familiar with. They include Charcot–Marie–Tooth disease, which is common yet currently lacks targeted treatment, and hATTRV polyneuropathy, which is rare but has disease-modifying gene therapies. With a focus on emerging new genes and treatments, this article offers a recent update on clinical diagnosis and management of inherited neuropathies.
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