Whole-Exome Sequencing in Limb-Girdle Muscular Dystrophy

The limb-girdle muscular dystrophies (LGMD) are a phenotypically and genetically diverse group of hereditary myopathies characterized primarily by proximal muscle weakness affecting the shoulder and hip girdles. Although the inheritance pattern and clinical phenotype may help direct genetic testing for one of the 27 known genetic causes of LGMD, establishing a firm genetic diagnosis is complex, in part because so few clinical features are specifically characteristic of this group of disorders (Neurology 2014 83:1454).

Now, investigators have evaluated the utility of whole-exome sequencing (WES) to aid in the genetic diagnosis of LGMD in 60 evaluable families in Australia of 154 families for whom traditional gene-sequencing and protein-bioche…