Zobrazeno 1 - 1
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pro vyhledávání: '"Inès Balbueno"'
Autor:
Xavière Lornage, Vanessa Schartner, Inès Balbueno, Valérie Biancalana, Tracey Willis, Andoni Echaniz-Laguna, Sophie Scheidecker, Ros Quinlivan, Michel Fardeau, Edoardo Malfatti, Béatrice Lannes, Caroline Sewry, Norma B. Romero, Jocelyn Laporte, Johann Böhm
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-10 (2019)
Abstract 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 genet
Externí odkaz:
https://doaj.org/article/d42c29aa23c94636a8ccd59abddd09be
