Limb-Girdle Muscular Dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by progressive weakness of proximal muscles. LGMD2A, is caused by mutations in the CAPN3 gene encoding calpain-3, a muscle-specific enzyme involved in a physiological process in muscle called “sarcomere remodeling”. Clinically, LGMD2A is characterized by progressive weakness of proximal limb-girdle muscles. Calf hypertrophy is rare and there is no mental, cardiac, or facial disturbance.The aim of this work is to determinate the Genetic, immunologic and phenotypic features of Tunisian patient with LGMD2A.

We describe a male patient belonging to consanguineous marriage originally from Tunisia. The patient inclusion criteria were: Clinical phenotype consistent with AR-LGMD; raised serum creatine kinase (CK) level and muscle histopathology consistent with a dystrophic process. The mutation analysis for LGMD2 case was performed by the targeted DNA sequencing. The CAPN3 protein deficiency was demonstrated by the Western Blot multiplex (WB).

The neurological examination for the LGMD2A case displayed a mild LGMD2A phenotypic feature: proximal predominant muscles weakness, calves hypertrophy, elevated CK level and mild mental retardation. But, not weakness facial, dysphagia and wheelchair-bound state have been reported. Also, the echocardiogram and the pulmonary function test were normal.

The presence of the missense mutation (c.T1681C/p.Y561H) in the LGMD2A patient induces the complete absence of the CAPN3 protein. Based on the clinical and immunological features, we believe that this mutation is indeed pathogenic.