Article
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
Neuromuscular disorders : NMD - 1 Feb 2007
Milic Astrid, Daniele Nathalie, Lochmüller Hanns, Mora Marina, Comi Giacomo P, Moggio Maurizio, Noulet Fanny, Walter Maggie C, Morandi Lucia, Poupiot Jérôme, Roudaut Carinne, Bittner Reginald E, Bartoli Marc, Richard Isabelle
Abstract excerpt
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a calcium-dependent protease. We developed an in vitro assay that can detect the proteolytic activity of calpain 3 in a muscle sample. This assay is based on the use of an inactive calpain 3 as a substrate for active calpain 3 molecules. A total of 79 human biopsies...
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