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CASE REPORT
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis
  1. Dolores Gonzalez-Moron1,
  2. Jose Bueri2,
  3. Marcelo Andres Kauffman1
  1. 1Neurogenetics Unit, Hospital JM Ramos Mejia, Buenos Aires, Argentina
  2. 2Department of Neurology, Hospital Austral, Buenos Aires, Argentina
  1. Correspondence to Dr Marcelo Andres Kauffman, marcelokauffman{at}gmail.com

Summary

We described a case of a patient with autosomal dominant progressive external ophthalmoplegia (PEO) who presented with the acute onset dysphagia, quadriparesis, ptosis and respiratory insufficiency following a cardiac procedure and mimicking a myasthenic crisis. A pathogenic mutation in the C10orf2 (PEO1) gene was confirmed. The unusual presentation of our patient contributes to expand the clinical phenotype of PEO1 mutations and reinforces the need to consider mitochondrial myopathy as differential diagnosis of myasthenia gravis even in the case of acute onset symptoms.

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