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Severe autosomal recessive rippling muscle disease
Author(s) -
Koul Roshan L.,
Chand Rangnath P.,
Chacko Alexander,
Ali Mehar,
Brown Kevin M.,
Bushnarmuth Shivayogi R.,
Escolar Diana M.,
Stephan Dietrich A.
Publication year - 2001
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.1180
Subject(s) - rippling , medicine , myopathy , sarcomere , cardiomyopathy , disease , skeletal muscle , muscle disease , pathology , myocyte , heart failure , computer science , programming language
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. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 1542–1547, 2001