Calcium-regulated non-lysosomal thiol-protease.
[1]Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families."Kawai H., Akaike M., Kunishige M., Inui T., Adachi K., Kimura C., Kawajiri M., Nishida Y., Endo I., Kashiwagi S., Nishino H., Fujiwara T., Okuno S., Roudaut C., Richard I., Beckmann J.S., Miyoshi K., Matsumoto T. Muscle Nerve 21:1493-1501(1998). [2]Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings."Penisson-Besnier I., Richard I., Dubas F., Beckmann J.S., Fardeau M.Muscle Nerve 21:1078-1080(1998). [3]A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A."Haeffner K., Speer A., Huebner C., Voit T., Oexle K.Hum. Mutat. Suppl. 1:S298-S300(1998).