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

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

doi:10.1016/j.nmd.2011.12.001

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

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

Istituto di Neuroriabilitazione Motoria San Camillo

Research output: Contribution to journal › Article › peer-review

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 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.

Original language	English
Pages (from-to)	534-540
Number of pages	7
Journal	Neuromuscular Disorders
Volume	22
Issue number	6
DOIs	https://doi.org/10.1016/j.nmd.2011.12.001
Publication status	Published - Jun 2012

Keywords

Caveolinopathy
Facioscapulohumeral dystrophy
Limb girdle muscular dystrophy type 1C
Rippling muscle disease

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Genetics(clinical)
Neurology

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Ricci, G., Scionti, I., Alì, G., Volpi, L., Zampa, V., Fanin, M., Angelini, C., Politano, L., Tupler, R., & Siciliano, G. (2012). 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. Neuromuscular Disorders, 22(6), 534-540. https://doi.org/10.1016/j.nmd.2011.12.001

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.

In: Neuromuscular Disorders, Vol. 22, No. 6, 06.2012, p. 534-540.

Research output: Contribution to journal › Article › peer-review

Ricci, G, Scionti, I, Alì, G, Volpi, L, Zampa, V, Fanin, M, Angelini, C, Politano, L, Tupler, R & Siciliano, G 2012, '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', Neuromuscular Disorders, vol. 22, no. 6, pp. 534-540. https://doi.org/10.1016/j.nmd.2011.12.001

Ricci G, Scionti I, Alì G, Volpi L, Zampa V, Fanin M et al. 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. Neuromuscular Disorders. 2012 Jun;22(6):534-540. https://doi.org/10.1016/j.nmd.2011.12.001

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. In: Neuromuscular Disorders. 2012 ; Vol. 22, No. 6. pp. 534-540.

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AU - Volpi, Leda

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AU - Fanin, Marina

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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

Abstract

Keywords

ASJC Scopus subject areas

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