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

We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy. The patient displayed also bilateral winged scapula with limited abduction of upper arms and marked asymmetric atrophy of leg muscles shown by magneti...

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Detalles Bibliográficos
Autores principales: Ricci, Giulia, Scionti, Isabella, Alì, Greta, Volpi, Leda, Zampa, Virna, Fanin, Marina, Angelini, Corrado, Politano, Luisa, Tupler, Rossella, Siciliano, Gabriele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359497/
https://www.ncbi.nlm.nih.gov/pubmed/22245016
http://dx.doi.org/10.1016/j.nmd.2011.12.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359497/
https://www.ncbi.nlm.nih.gov/pubmed/22245016
http://dx.doi.org/10.1016/j.nmd.2011.12.001

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