Clinical, histological, and genetic characterization of PYROXD1-related myopathy

Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb-girdle muscular dystrophy. Here we describe three novel PYROXD1 families at the clinical, histological, and genetic level. Histological analyses on muscle biopsies from all...

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Publicado en:Acta Neuropathol Commun
Autores principales: Lornage, Xavière, Schartner, Vanessa, Balbueno, Inès, Biancalana, Valérie, Willis, Tracey, Echaniz-Laguna, Andoni, Scheidecker, Sophie, Quinlivan, Ros, Fardeau, Michel, Malfatti, Edoardo, Lannes, Béatrice, Sewry, Caroline, Romero, Norma B., Laporte, Jocelyn, Böhm, Johann
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6710884/
https://ncbi.nlm.nih.gov/pubmed/31455395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-019-0781-8
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