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Genetics

Authoring team

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 transcription of survival factors.

Reference:

  1. Bouchard C, Tremblay JP. Limb-Girdle Muscular Dystrophies Classification and Therapies. J Clin Med. 2023 Jul 19;12(14):4769.

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