1.
J Neurol Sci
; 243(1-2): 61-4, 2006 Apr 15.
Article
in English
| MEDLINE
| ID: mdl-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.