Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.
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DOI: 10.1111/ene.15252
Abstract: BACKGROUND Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset myopathy characterized by ptosis, dysphagia, and progressive proximal limb muscle weakness. The disease is produced by a short expansion of the (GCN)n triplet in the… read more here.
Keywords: muscular dystrophy; features large; oculopharyngeal muscular; cohort ... See more keywords