Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Biallelic pathogenic variants in the genePYROXD1have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated withPYROXD1pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants inPYROXD1include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygousPYROXD1missense variants (NM_024854.5:c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes ofPYROXD1-associated myopathy.