Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.

Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.
Related ArticlesNovel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy. J Mol Neurosci. 2019 Aug 13;: Authors: Rekik S, Sakka S, Ben Romdhan S, Farhat N, Baba Amer Y, Lehkim L, Authier FJ, Mhiri C Abstract CAPN3 gene encodes for calpain-3; this protein is a calcium-dependent intracellular protease. Deficiency of this enzyme leads to weakness ... read more
Source: PubMedPublished on 2019-08-15