Oculopharyngeal muscular dystrophy

DOI: https://doi.org/10.29296/25877305-2019-04-14
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Issue: 
4
Year: 
2019

E. Nogicheva(1), E. Ryzhova(1), M. Ovsyannikova(1), E. Antipenko(1), V. Ruin(2) 1-Volga Research Medical University, Nizhny Novgorod 2-N.A. Semashko Nizhny Novgorod Regional Clinical Hospital

The paper gives data on the genetic variants and clinical features of oculopharyngeal muscular dystrophy (OPMD) and difficulties of its differential diagnosis. It describes clinical cases of autosomal dominant inherited OPMD with different degrees of hypokinesia and different rates of disease progression.

Keywords: 
neurology
neuromuscular diseases
oculopharyngeal muscular dystrophy
hereditary myopathy



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