LİMBE GİRDLE MUSCULAR DYSTROPHY WİTH A MUTATİON İN THE CAVEOLİN-3 (CAV-3) GENE

Objectives Caveolin-3 (CAV3) is the muscle-specific form of the caveolin protein family. CAV3 mutations are otosomal dominant inherited and causes muscular dystrophy. Here, we discribed a patient with CAV3 gene mutation and Limbe Girdle muscular dystrophy (LGMD). Methods An 11-year-old male patient admitted to our hospital with the complaint of myalgia, toe walking and muscle weakness. Muscle strength was 3/5 in the upper and lower extremities. Deep tendon reflexes were hypoactive and Gower's sign was positive. The patient's cognitive functions were in normal limits. Serum creatine kinase 2116 U/L. Cranial and spinal magnetic resonance imagings were normal. Electromyogram was consistent with myopathy and nerve conduction velocities were considered normal. Echocardiography was normal and no rhythm disturbance was observed in electrocardiography. Heterozygous CAV3 c.290_292delTCT(p.Phe97del) mutation variant was revealed in clinical exome sequence analysis. Results LGMD is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. The caveolin family form hetero-oligomers in many cell types and forms a complex with dystrophin and its associated glycoproteins. The expression of caveolin-3 is muscle specific and causes shoulder-hip muscle dystrophy (LGMD), fluctuating muscle disease (RMD), distal myopathy, or asymptomatic creatine kinase elevation. Conclusion CAV3 gene mutation associated with LGMD is rare. Multidisciplinary follow-up with a focus on physical therapy and especially periodic cardiac examination significantly reduce mortality and morbidity.
Keywords: cav3, limbe girdle muscular dystrophy