Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance

Abstract

We describe sibling cases presenting with long-standing, slowly progressive proximal muscle weakness without joint contractures or hyperlaxity. Whole-exome sequence analysis showed compound heterozygous mutations including a novel stop codon mutation of p.*1020Yext*86 (c.3060G > C) in COL6A2 as the causative mutations, establishing the diagnosis of COL6A2-related myopathy presenting with limb girdle muscular dystrophy phenotype with autosomal recessive inheritance. Collagen VI-related myopathies should be considered in patients with early childhood-onset, slowly progressive proximal weakness even without joint contractures.