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

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 79; no. 6; pp. 735 - 737
• Main Authors: Traverso, M, Bruno, C, Broccolini, A, Sotgia, F, Donati, M A, Assereto, S, Gazzerro, E, Lo Monaco, M, Modoni, A, D’Amico, A, Gasperini, S, Ricci, E, Zara, F, Lisanti, M, Minetti, C
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.06.2008; BMJ Publishing Group LTD
• Subjects: Adult; Biopsy; Caveolin 3 - genetics; Chromosome Aberrations; Chromosome Deletion; Creatine Kinase - blood; Deoxyribonucleic acid; DNA; DNA Mutational Analysis; Electromyography; Exons - genetics; Female; Genes; Genes, Recessive - genetics; Genetic Carrier Screening; Genotype; Humans; Kinases; Muscle Contraction - genetics; Muscle Cramp - diagnosis; Muscle Cramp - genetics; Muscle Weakness - diagnosis; Muscle Weakness - genetics; Muscle, Skeletal - pathology; Muscular Diseases - diagnosis; Muscular Diseases - genetics; Mutation; Neurologic Examination; Patients; Pedigree; Polymerase Chain Reaction; Polymorphism, Single Nucleotide - genetics; Proteins; Receptors, Oxytocin - genetics
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.2007.133207

Immunohistochemistry analysis of the muscle specimens from the patients is essential to define the degree of the protein defect, and may direct the genetic study. [...]new diagnostic tools such as SNP genotyping, multiple ligation probe amplification or other systems to determine copy number variation, and analysis of putative genome regulatory elements, might be required. [...]caveolinopathies can be transmitted as autosomal-dominant or autosomal-recessive traits.