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

Aldobrando Broccolini, Enzo Ricci, Maria Benedetta Donati, Mauro Lo Monaco, Anna Modoni, M Traverso, Claudio Bruno, F Sotgia, S Assereto, E Gazzerro, Anna D'Amico, S Gasperini, F Zara, M Lisanti, C Minetti

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

No abstract
Original languageEnglish
Pages (from-to)735-737
Number of pages3
JournalJOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY
Volume79
DOIs
Publication statusPublished - 2008

Keywords

  • Adult
  • Biopsy
  • Caveolin 3
  • Chromosome Aberrations
  • Chromosome Deletion
  • Creatine Kinase
  • DNA Mutational Analysis
  • Electromyography
  • Exons
  • Female
  • Genes, Recessive
  • Genotype
  • Heterozygote Detection
  • Humans
  • Muscle Contraction
  • Muscle Cramp
  • Muscle Weakness
  • Muscle, Skeletal
  • Muscular Diseases
  • Neurologic Examination
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Receptors, Oxytocin

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