Giulia Ricci Isabella Scionti Greta Alì Leda Volpi Virna Zampa Marina Fanin Corrado Angelini Luisa Politano Rossella Tupler Gabriele Siciliano
10.1016/j.nmd.2011.12.001
Neuromuscul Disord
2012 Jun;22(6):534-40.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/22245016/
Caveolin 3 / genetics Muscular Diseases / genetics Muscular Dystrophy, Facioscapulohumeral / genetics
Caveolin 3 / genetics Muscular Diseases / genetics Muscular Dystrophy, Facioscapulohumeral / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Alleles Caveolin 3 / metabolism Heterozygote Humans Male Middle Aged Muscle, Skeletal / metabolism Muscle, Skeletal / pathology Muscular Diseases / metabolism Muscular Diseases / pathology Muscular Dystrophy, Facioscapulohumeral / metabolism Muscular Dystrophy, Facioscapulohumeral / pathology Phenotype CAV3 protein, human Caveolin 3 Rippling muscle disease, 1
PMC3359497
22245016
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes
2012