These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A new missense mutation in caveolin-3 gene causes rippling muscle disease.
    Author: Dotti MT, Malandrini A, Gambelli S, Salvadori C, De Stefano N, Federico A.
    Journal: J Neurol Sci; 2006 Apr 15; 243(1-2):61-4. PubMed ID: 16458928.
    Abstract:
    Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.
    [Abstract] [Full Text] [Related] [New Search]