Literature DB >> 9392016

Oculopharyngeal muscular dystrophy in Uruguay.

M Medici1, C Pizzarossa, D Skuk, D Yorio, G Emmanuelli, R Mesa.   

Abstract

Within the last 30 years, sixty-five patients exhibiting the clinical symptoms of oculopharyngeal muscular dystrophy (OPMD) were studied at the Neuromuscular Diseases Unit of the Neurological Institute of Montevideo. They are members of five unrelated families which came from the Canary Islands to Uruguay between 1850 and 1900. In the three families examined, the typical inclusions characteristic of OPMD were found in the nuclei of muscle fibers. Treatment for ptosis and dysphagia was discussed. The particular migratory pattern of this group of patients could be of considerable interest in the study of molecular genetics.

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Year:  1997        PMID: 9392016     DOI: 10.1016/s0960-8966(97)00082-5

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  3 in total

1.  Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy.

Authors:  Mireia Tondo; Josep Gámez; Eduardo Gutiérrez-Rivas; Ramón Medel-Jiménez; Loreto Martorell
Journal:  J Neurol       Date:  2012-01-10       Impact factor: 4.849

2.  Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: a retrospective study with implications for trial design.

Authors:  Sarah Youssof; Ronald Schrader; David Bear; Leslie Morrison
Journal:  Neuromuscul Disord       Date:  2014-11-20       Impact factor: 4.296

Review 3.  Recent Progress in Oculopharyngeal Muscular Dystrophy.

Authors:  Satoshi Yamashita
Journal:  J Clin Med       Date:  2021-03-29       Impact factor: 4.241

  3 in total

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