Family with Calpain 3 associated limb-girdle muscular dystrophy with an atypical phenotype due to a novel mutation
Keywords:
atypical phenotype, Calpain 3, early contractures, rigid spineAbstract
Calpain 3 (CAPN3) associated Limb-Girdle Muscle Dystrophy (LGMD) R1/2A is the most common form of all LGMDs worldwide. The clinical course is usually presented by initial involvement of the proximal muscles of the lower extremities, flexors and adductor muscles of the thighs, knee flexors, with subsequent involvement of the distal muscles of the lower extremities and axial muscles. We present a family with an atypical course of LGMD R1 /2A with proximal muscle weakness, early contractures and rigid spine, without cardiac involvement, due to a novel mutation in CAPN3.
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