Severe autosomal recessive rippling muscle disease

Roshan L. Koul, Rangnath P. Chand, Alexander Chacko, Mehar Ali, Kevin M. Brown, Shivayogi R. Bushnarmuth, Diana M. Escolar, Dietrich A. Stephan*

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

29 اقتباسات (Scopus)

ملخص

Rippling muscle disease (RMD) has previously been reported as a skeletal myopathy that was attributed to a defect in the sarcomere. Here we report a new form of RMD that is more severe, characterized by fatal arrhythmic cardiomyopathy and delayed bone age. Mortality has previously not been associated with RMD. With this report we hope to raise awareness that a subset of patients with this clinical entity are predisposed to severe cardiac disease.

اللغة الأصليةEnglish
الصفحات (من إلى)1542-1547
عدد الصفحات6
دوريةMuscle and Nerve
مستوى الصوت24
رقم الإصدار11
المعرِّفات الرقمية للأشياء
حالة النشرPublished - 2001

ASJC Scopus subject areas

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بصمة

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