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, genetics, isoprenoid synthase domain-containing (ISPD) gene, limb girdle
muscular dystrophy, LGMD2R, transportin 3.
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