Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: data from the national CMT registry.

European journal of neurology（2023）

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摘要

The Italian CMT Registry has proven to be a powerful data source to collect information about epidemiology and genetic distribution, clinical features and disease progression of CMT in Italy and is a useful tool for recruiting patients in forthcoming clinical trials.

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关键词

Charcot-Marie-Tooth disease, epidemiology, gene frequency, phenotype, registry

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