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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

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

Woods Jeremy D JD Khanlou Negar N Lee Hane H Signer Rebecca R Shieh Perry P Chen Johnathan J Herzog Matthew M Palmer Christina C Martinez-Agosto Julian J Nelson Stanley F SF

Neuropathology : official journal of the Japanese Society of Neuropathology 20200209 3

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]) exp ...[more]

PMID: 32037607

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