Myoclonus dystonia and muscular dystrophy: e sarcoglycan is part of the dystrophin associated protein complex in brain
Myoclonus dystonia is a neurogenic movement disorder caused by mutations in the gene encoding e sarcoglycan. By contrast, mutations in the a b g and d sarcoglycan genes cause limb girdle muscular dystrophies. The sarcoglycans are part of the dystrophin associated protein complex in muscle that is disrupted in several types of muscular dystrophy. Intriguingly, patients with myoclonus dystonia have no muscle pathology; conversely, limb girdle muscular dystrophy patients have not been reported to have dystonia associated features. To gain further insight into the molecular mechanisms underlying these differences, we searched for evidence of a sarcoglycan complex in the brain.
Movement disorders official journal of the Movement Disorder Society