PROMM in Italy: Clinical and biomolecular findings

G. Meola, V. Sansone, G. Rotondo, E. Nobile-Orazio, T. Mongini, C. Angelini, A. Toscano, M. Mancuso, G. Siciliano

Research output: Contribution to journalArticle

Abstract

Proximal myotonic myopathy PROMM is a multisystem disorder, only similar to myotonic dystrophy. The genetic lesion is unknown but clinical and genetic heterogeneity exist. We describe 50 patients from 10 unrelated families in Italy to better define the clinical spectrum of the syndrome. The clinical and biomolecular findings of these patients fits the core features delineated recently at ENMC International Workshop.

Original languageEnglish
Pages (from-to)21-26
Number of pages6
JournalActa Myologica
Volume2
Publication statusPublished - 1998

Keywords

  • CTG expansion
  • Myotonic dystrophy
  • Proximal myotonic myopathy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Clinical Neurology

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    Meola, G., Sansone, V., Rotondo, G., Nobile-Orazio, E., Mongini, T., Angelini, C., Toscano, A., Mancuso, M., & Siciliano, G. (1998). PROMM in Italy: Clinical and biomolecular findings. Acta Myologica, 2, 21-26.