VWA1 and distal hereditary motor neuropathy: In 2021, homozygous or compound heterozygous loss-of-function VWA1 variants were reported as a cause of recessive dHMN with myopathic features (neuromyopathy).39 40 The most common disease-causing variant reported was a 10 bp duplication (c.62_71dup10) resulting in a frameshift (p.Gly25ArgfsTer74).39 40 The c.62_71dup10 variant is the most frequent VWA1 variant in gnomAD (minor allele frequency 0.06%,39 rising to 0.091% in non-Finnish Europeans) with no reported homozygotes.40