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

Abstract

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 magnetic resonance imaging. Immunohistochemistry on the patient's… (More)
DOI: 10.1016/j.nmd.2011.12.001

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@inproceedings{Ricci2012RipplingMD, title={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}, author={Giulia Ricci and Isabella Scionti and Greta Al{\'i} and Leda Volpi and Virna Zampa and Marina Fanin and Corrado I. Angelini and Luisa Politano and Rossella G Tupler and Gabriele Siciliano}, booktitle={Neuromuscular Disorders}, year={2012} }