<p class="jove_content">This study reports a Chinese consanguineous pedigree with adult-onset distal hereditary motor neuropathy (dHMN) caused by a homozygous c.1124G&#62;A variant in the vaccinia-related kinase 1 (VRK1) gene. The findings expand the clinical phenotypic and genetic spectrum of VRK1-related dHMN in the Chinese population.</p>

a-case-report-pedigree-with-distal-hereditary-motor-neuropathy-caused

A Case Report of a Pedigree with Distal Hereditary Motor Neuropathy Caused by a Homozygous c.1124G&#62;A Variant an the /*9Vaccinia-Related Kinase 1 Gene

This study aimed to analyze the clinical phenotypes, neurophysiological characteristics, and pathogenicity of gene variants in a pedigree with distal ...

Institution - Yunnan Provincial Hospital of Traditional Chinese Medicine

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