Background: Limb girdle muscular dystrophy (LGMD) is a phenotypic expression of a heterogeneous group of diseases and sarcoglycanopathy is one of the causes of LGMD. There is only one study on sarcoglycanopathies in the Indian literature. No data is available from northern India. Materials and Methods: All cases of muscular dystrophies, which were diagnosed in our laboratory in the last six yea...

Background Mutations in proteins can have deleterious effects on a protein’s stability and function, which ultimately causes particular diseases. Genetically inherited muscular dystrophies include several genetic diseases, which cause increasing weakness in muscles and disability to perform muscular functions progressively. Different neuro-muscular diseases are caused by different types of muta...

The Fourth International Workshop for Glycosylation Defects in Muscular Dystrophies took place on April 1617, 2015 at the Fairfield Inn and Suites Charlotte Uptown, Charlotte, North Carolina. The workshop was hosted by the McColl-Lockwood Laboratory for Muscular Dystrophy Research, and sponsored by the Carolinas HealthCare Foundation, the Muscular Dystrophy Association (MDA), funds raised by “R...

Neuromuscular disorders are known to be associated with cardiac disease but often the cardiovascular symptoms can be difficult to unravel due to low physical activity in this patient group and thereby low strain on the heart. On the other hand, cardiomyopathy or cardiac arrhythmogenic disease may be the first sign of an underlying neuromuscular disorder. Indeed, of the more than 40 genes that h...

Perturbation in the Dystroglycan (Dg)-Dystrophin (Dys) complex results in muscular dystrophies and brain abnormalities in human. Here we report that Drosophila is an excellent genetically tractable model to study muscular dystrophies and neuronal abnormalities caused by defects in this complex. Using a fluorescence polarization assay, we show a high conservation in Dg-Dys interaction between hu...