Articles with "pmp22 mutations" as a keyword



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Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease

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Published in 2020 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2020.00630

Abstract: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited neuropathies. The purpose of this study is to identify the clinical and genetic diversity of peripheral myelin protein 22 (PMP22) in Chinese patients… read more here.

Keywords: pmp22; clinical genetic; charcot marie; pmp22 mutations ... See more keywords