title: Severe autosomal recessive rippling muscle disease.
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.
authors.affiliation: Department of Pediatric Neurology, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: R L
authors.initials: RL
authors.lastname: Koul
authors.forename: R P
authors.initials: RP
authors.lastname: Chand
authors.forename: A
authors.initials: A
authors.lastname: Chacko
authors.forename: M
authors.initials: M
authors.lastname: Ali
authors.forename: K M
authors.initials: KM
authors.lastname: Brown
authors.forename: S R
authors.initials: SR
authors.lastname: Bushnarmuth
authors.forename: D M
authors.initials: DM
authors.lastname: Escolar
authors.forename: D A
authors.initials: DA
authors.lastname: Stephan
mesh_terms: D000293:Adolescent; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D004562:Electrocardiography; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype