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ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

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  1. Article

    Open Access

    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 clin...

    Xavière Lornage, Vanessa Schartner, Inès Balbueno… in Acta Neuropathologica Communications (2019)

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  2. Article

    Open Access

    Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

    Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the muscle biopsy. The neb...

    Edoardo Malfatti, Vilma-Lotta Lehtokari… in Acta Neuropathologica Communications (2014)

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