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  1. No Access

    Article

    Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

    Stephen Baghdiguian, Marianne Martin, Isabelle Richard, Françoise Pons… in Nature Medicine (1999)

  2. No Access

    Article

    Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy

    Desmin is a muscle-specific intermediate filament that is encoded by a gene assigned to human chromosome 2q35. Desmin-related myopathies are inherited disorders characterized by an intrasarcoplasmic accumulat...

    P. Vicart, Jean-Marie Dupret, Jamilé Hazan, Zhenlin Li, Gabor Gyapay… in Human Genetics (1996)

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    Article

    Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene

    The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product.

    Jean-Jacques Pernelle, Philippe Chafey, Jamel Chelly, Juan Pedro Wahrmann… in Human Genetics (1988)