Rippling muscle disease: variable phenotype in a family with five afflicted members.
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.
Jacobi
Christian
C
Department of Neurology, University of Heidelberg, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany. christian_jacobi@med.uni-heidelberg.de
Ruscheweyh
Ruth
R
Vorgerd
Matthias
M
Weber
Marc-André
MA
Storch-Hagenlocher
Brigitte
B
Meinck
Hans Michael
HM
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
C417736:CAV3 protein, human; D051244:Caveolin 3