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Article

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

European journal of neurology - 1 Jul 2020

Liu X, Duan X, Zhang Y, Sun A, Fan D

Abstract excerpt

BACKGROUND AND PURPOSE: Distal hereditary motor neuropathies (dHMNs) are a clinically and genetically heterogeneous group of disorders. The purpose of this study was to identify the genetic distribution of dHMNs in a large cohort of Chinese patients and provide insight into the underlying common pathophysiology of dHMNs. METHODS: Multi-gene panel testing or whole-exome sequencing was performed in 70 index...

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PMID: 32298515
DOI: 10.1111/ene.14260

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