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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pergamon Press
2012
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Materias: | |
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 |
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author | Ricci, Giulia Scionti, Isabella Alì, Greta Volpi, Leda Zampa, Virna Fanin, Marina Angelini, Corrado Politano, Luisa Tupler, Rossella Siciliano, Gabriele |
author_facet | Ricci, Giulia Scionti, Isabella Alì, Greta Volpi, Leda Zampa, Virna Fanin, Marina Angelini, Corrado Politano, Luisa Tupler, Rossella Siciliano, Gabriele |
author_sort | Ricci, Giulia |
collection | PubMed |
description | 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 muscle biopsy demonstrated a reduction of caveolin-3 staining, compatible with the diagnosis of caveolinopathy. Interestingly, consistent with the possible diagnosis of FSHD, the patient carried a 35 kb D4Z4 allele on chromosome 4q35. We discuss the hypothesis that the two genetic mutations may exert a synergistic effect in determining the phenotype observed in this patient. |
format | Online Article Text |
id | pubmed-3359497 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Pergamon Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-33594972012-06-01 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 Ricci, Giulia Scionti, Isabella Alì, Greta Volpi, Leda Zampa, Virna Fanin, Marina Angelini, Corrado Politano, Luisa Tupler, Rossella Siciliano, Gabriele Neuromuscul Disord Article 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 muscle biopsy demonstrated a reduction of caveolin-3 staining, compatible with the diagnosis of caveolinopathy. Interestingly, consistent with the possible diagnosis of FSHD, the patient carried a 35 kb D4Z4 allele on chromosome 4q35. We discuss the hypothesis that the two genetic mutations may exert a synergistic effect in determining the phenotype observed in this patient. Pergamon Press 2012-06 /pmc/articles/PMC3359497/ /pubmed/22245016 http://dx.doi.org/10.1016/j.nmd.2011.12.001 Text en © 2012 Elsevier B.V. https://creativecommons.org/licenses/by-nc-nd/3.0/ Open Access under CC BY-NC-ND 3.0 (https://creativecommons.org/licenses/by-nc-nd/3.0/) license |
spellingShingle | Article Ricci, Giulia Scionti, Isabella Alì, Greta Volpi, Leda Zampa, Virna Fanin, Marina Angelini, Corrado Politano, Luisa Tupler, Rossella Siciliano, Gabriele 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 |
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 |
title_full | 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 |
title_fullStr | 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 |
title_full_unstemmed | 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 |
title_short | 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 |
title_sort | 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 |
topic | Article |
url | 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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