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

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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Bibliographic Details
Main Authors: Ricci, Giulia, Scionti, Isabella, Alì, Greta, Volpi, Leda, Zampa, Virna, Fanin, Marina, Angelini, Corrado, Politano, Luisa, Tupler, Rossella, Siciliano, Gabriele
Format: Online
Language:English
Published: Pergamon Press 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359497/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359497/

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