Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease

J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):735-7. doi: 10.1136/jnnp.2007.133207.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biopsy
  • Caveolin 3 / genetics*
  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Creatine Kinase / blood
  • DNA Mutational Analysis*
  • Electromyography
  • Exons / genetics
  • Female
  • Genes, Recessive / genetics*
  • Genetic Carrier Screening
  • Genotype
  • Humans
  • Muscle Contraction / genetics
  • Muscle Cramp / diagnosis
  • Muscle Cramp / genetics*
  • Muscle Weakness / diagnosis
  • Muscle Weakness / genetics*
  • Muscle, Skeletal / pathology
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Neurologic Examination
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide / genetics
  • Receptors, Oxytocin / genetics

Substances

  • Caveolin 3
  • Receptors, Oxytocin
  • Creatine Kinase