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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)534-540
Number of pages7
JournalNeuromuscular Disorders
Volume22
Issue number6
DOIs
Publication statusPublished - Jun 2012

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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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