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.
Dotti, M., Malandrini, A., Gambelli, S., Salvadori, C., DE STEFANO, N., Federico, A. (2006). A new missense mutation in caveolin-3 gene causes rippling muscle disease. JOURNAL OF THE NEUROLOGICAL SCIENCES, 243(1-2), 61-64 [10.1016/j.jns.2005.11.032].
A new missense mutation in caveolin-3 gene causes rippling muscle disease.
DOTTI, MARIA;MALANDRINI, ALESSANDRO;GAMBELLI, SIMONA;SALVADORI, CLAUDIO;DE STEFANO, NICOLA;FEDERICO, ANTONIO
2006-01-01
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.
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https://hdl.handle.net/11365/23131
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