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Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutations

1 Jan 2024

Abstract excerpt

Abstract A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (VWA1). This study further delineates the disease characteristics in a cohort of 20 individuals diagnosed through genome or exome sequencing, incorporating...

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PMID: 39502942
DOI: 10.1093/braincomms/fcae377

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