Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.

ABSTRACT: Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygous PYROXD1 missense variants (NM_024854.5:c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.

SUBMITTER: Woods JD 

PROVIDER: S-EPMC7317439 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature