Severe autosomal recessive rippling muscle disease

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 associate...

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Bibliographic Details
Published in:Muscle & nerve 2001-11, Vol.24 (11), p.1542-1547
Main Authors: Koul, Roshan L., Chand, Rangnath P., Chacko, Alexander, Ali, Mehar, Brown, Kevin M., Bushnarmuth, Shivayogi R., Escolar, Diana M., Stephan, Dietrich A.
Format: Article
Language:English
Subjects:
Adolescent
Arrhythmias, Cardiac - diagnosis
Arrhythmias, Cardiac - genetics
Arrhythmias, Cardiac - mortality
Biological and medical sciences
cardiomyopathy
Diseases of striated muscles. Neuromuscular diseases
Electrocardiography
Family Health
Fatal Outcome
Female
Genes, Recessive
Humans
Male
Medical sciences
muscle
Muscle, Skeletal - pathology
Muscular Diseases - genetics
Muscular Diseases - pathology
Neurology
Pedigree
Phenotype
rippling muscle disease
sarcomere
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Summary: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
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.1180