Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

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 ess...

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Detalles Bibliográficos
Autores principales: Woods, Jeremy D., Khanlou, Negar, Lee, Hane, Signer, Rebecca, Shieh, Perry, Chen, Johnathan, Herzog, Matthew, Palmer, Christina, Martinez‐Agosto, Julian, Nelson, Stanley F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317439/
https://www.ncbi.nlm.nih.gov/pubmed/32037607
http://dx.doi.org/10.1111/neup.12641

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