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

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

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 genetic level. Histological analyses on muscle biopsies...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Acta Neuropathologica Communications
Subjects:
PYROXD1
Oxidoreductase
Congenital myopathy
LGMD
Myofibrillar inclusions
Online Access:http://link.springer.com/article/10.1186/s40478-019-0781-8

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http://link.springer.com/article/10.1186/s40478-019-0781-8

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