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

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1542-1547
Number of pages6
JournalMuscle and Nerve
Volume24
Issue number11
DOIs
Publication statusPublished - 2001

Keywords

  • Cardiomyopathy
  • Muscle
  • Rippling muscle disease
  • Sarcomere

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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    Koul, R. L., Chand, R. P., Chacko, A., Ali, M., Brown, K. M., Bushnarmuth, S. R., Escolar, D. M., & Stephan, D. A. (2001). Severe autosomal recessive rippling muscle disease. Muscle and Nerve, 24(11), 1542-1547. https://doi.org/10.1002/mus.1180