Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.

@article{Garnham2009LimbgirdleMD,
  title={Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.},
  author={Christopher P. Garnham and Rachel A. Hanna and Jordan S Chou and Kristin E Low and Keith Gourlay and Robert L. Campbell and Jacques S. Beckmann and Peter L Davies},
  journal={Biochemistry},
  year={2009},
  volume={48 15},
  pages={3457-67}
}
Loss-of-function mutations in calpain 3 have been shown to cause limb-girdle muscular dystrophy type 2A (LGMD2A), an autosomal recessive disorder that results in gradual wasting of the muscles of the hip and shoulder areas. Due to the inherent instability of calpain 3, recombinant expression of the full-length enzyme has not been possible, making in vitro analysis of specific LGMD2A-causing mutations difficult. However, because calpain 3 is highly similar in amino acid sequence to calpain 2… CONTINUE READING

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