Paramyotonia congenita in 22 members of an Arab (Omani) kindred

Roshan Koul, Amna Alfutaisi, Manjusha Hira

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, this is the first report of the condition from this region. Childhood presentation and differential diagnosis is discussed.

Original languageEnglish
Pages (from-to)212-215
Number of pages4
JournalJournal of Child Neurology
Volume25
Issue number2
DOIs
Publication statusPublished - Feb 2010

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Keywords

  • Autosomal dominant
  • Myotonia
  • Omani kindred
  • Paramyotonia congenita

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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