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Article

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

28 Mar 2019

Abstract excerpt

Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot-Marie-Tooth syndromes, but characterized by an exclusive involvement of the motor part of the peripheral nervous system. Here, we describe two new compound heterozygous mutations in VRK1, the vaccinia-related kinase 1 gene, in two siblings from a Lebanese family, affected with dHMN associated with upper motor...

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PMID: 31090908
DOI: 10.1093/hmg/ddz060

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