Article

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in<i>VCP</i>

2023-06-22

Abstract excerpt

<h4>ABSTRACT</h4> Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP) that presents with myopathy, bone disease, dementia, and/or motor neuron disease. Through GeneMatcher, we identified 13 unrelated individuals who carry novel heterozygous...

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Literature Corpus work: c9742f23-394a-5275-aa97-707737a855da
DOI: 10.1101/2023.06.19.23291232

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