Myotonic dystrophies

Giovanni Meola

Research output: Contribution to journalArticlepeer-review

Abstract

This review demonstrates genetic and phenotypic heterogeneity in all of the multisystemic myotonic disorders collectively called 'myotonic dystrophies' according to the new nomenclature: myotonic dystrophy type 1, myotonic dystrophy type 2, proximal myotonic myopathy and proximal myotonic dystrophy. Only two loci have so far been assigned (19q 13.3 in myotonic dystrophy type 1, and 3q 21.3 in myotonic dystrophy type 2). Although the diagnosis of these disorders may be suspected clinically, it needs to be confirmed by DNA analysis. (C) 2000 Lippincott Williams and Wilkins.

Original languageEnglish
Pages (from-to)519-525
Number of pages7
JournalCurrent Opinion in Neurology
Volume13
Issue number5
DOIs
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Neuroscience(all)

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