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Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Autosomal recessive LGMD results from a deficiency in calpain 3.

Calpain 3 is a calcium dependent cysteine protease which probably protects myocytes from apoptosis by degrading IKB-alpha. IKB-alpha inhibits the transcription factor NF-KB which stimulates trascription of survival factors.

Reference:

  • 1) Baghdiguian, S. et al. (1999). Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IKB-alpha/NF-KB pathway in limb-girdle muscular dystrophy type 2A. Nat. Med. 5(5), 503-511.

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