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.
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.
authors.affiliation: Department of Neuroscience, University of Pisa, Pisa, Italy. g_ricci@alice.it
authors.forename: Giulia
authors.initials: G
authors.lastname: Ricci
authors.forename: Isabella
authors.initials: I
authors.lastname: Scionti
authors.forename: Greta
authors.initials: G
authors.lastname: Alì
authors.forename: Leda
authors.initials: L
authors.lastname: Volpi
authors.forename: Virna
authors.initials: V
authors.lastname: Zampa
authors.forename: Marina
authors.initials: M
authors.lastname: Fanin
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
authors.forename: Luisa
authors.initials: L
authors.lastname: Politano
authors.forename: Rossella
authors.initials: R
authors.lastname: Tupler
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
mesh_terms: D000483:Alleles; D051244:Caveolin 3 / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010641:Phenotype
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3