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  1. Article

    Open Access

    Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

    Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene. While the pathophysiology of this disease has not been clearly establi...

    Anabel Rico, Andrea Valls, Garazi Guembelzu… in Orphanet Journal of Rare Diseases (2023)

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