title: Rippling muscle disease: variable phenotype in a family with five afflicted members.
abstract: We report a family with rippling muscle disease (RMD) who had an autosomal dominant mode of inheritance. The father, mother, and one daughter proved to be heterozygous, and two sons were homozygous for the A92T mutation of the caveolin-3 gene. The cardinal features of RMD, particularly percussion-induced rapid contractions, muscle mounding, and muscle rippling, varied considerably among these subjects. Moreover, all examined individuals showed muscle weakness; however, the patterns were inconsistent.
authors.affiliation: Department of Neurology, University of Heidelberg, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany. christian_jacobi@med.uni-heidelberg.de
authors.forename: Christian
authors.initials: C
authors.lastname: Jacobi
authors.forename: Ruth
authors.initials: R
authors.lastname: Ruscheweyh
authors.forename: Matthias
authors.initials: M
authors.lastname: Vorgerd
authors.forename: Marc-André
authors.initials: MA
authors.lastname: Weber
authors.forename: Brigitte
authors.initials: B
authors.lastname: Storch-Hagenlocher
authors.forename: Hans Michael
authors.initials: HM
authors.lastname: Meinck
mesh_terms: D000328:Adult; D000368:Aged; D001706:Biopsy; D051244:Caveolin 3 / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004576:Electromyography; D019054:Evoked Potentials, Motor / Q000502:physiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009119:Muscle Contraction / Q000502:physiology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3