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

Roshan Koul*, Amna Alfutaisi, Manjusha Hira

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

4 اقتباسات (Scopus)

ملخص

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.

اللغة الأصليةEnglish
الصفحات (من إلى)212-215
عدد الصفحات4
دوريةJournal of Child Neurology
مستوى الصوت25
رقم الإصدار2
المعرِّفات الرقمية للأشياء
حالة النشرPublished - فبراير 2010

ASJC Scopus subject areas

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