Revised Genetic Classification of Limb Girdle Muscular Dystrophies

Abstract

Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited progressive muscle disorders affecting predominantly the shoulder and pelvic girdle muscles. They present both with autosomal dominant and autosomal recessive patterns of inheritance. Recent development, including results from Next Generation Sequencing technology, expanded the number of recognised forms. Therefore a revised genetic classification that takes into account the novel entities is needed, allowing clinicians and researchers to refer to a common nomenclature for diagnostic and research purposes.

Keywords: Classification; DNAJB6; LGMD2R; genetics; isoprenoid synthase domain-containing (ISPD) gene; limb girdle muscular dystrophy; transportin 3.