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

✍ Scribed by Giulia Ricci; Isabella Scionti; Greta Alì; Leda Volpi; Virna Zampa; Marina Fanin; Corrado Angelini; Luisa Politano; Rossella Tupler; Gabriele Siciliano

• Book ID: 116795231
• Publisher: Elsevier Science
• Year: 2012
• Tongue: English
• Weight: 727 KB
• Volume: 22
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2011.12.001