TY - JOUR
T1 - Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion
T2 - Further evidence for "double trouble" overlapping syndromes
AU - Ricci, Giulia
AU - Scionti, Isabella
AU - Alì, Greta
AU - Volpi, Leda
AU - Zampa, Virna
AU - Fanin, Marina
AU - Angelini, Corrado
AU - Politano, Luisa
AU - Tupler, Rossella
AU - Siciliano, Gabriele
PY - 2012/6
Y1 - 2012/6
N2 - 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.
AB - 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.
KW - Caveolinopathy
KW - Facioscapulohumeral dystrophy
KW - Limb girdle muscular dystrophy type 1C
KW - Rippling muscle disease
UR - http://www.scopus.com/inward/record.url?scp=84860580533&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84860580533&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2011.12.001
DO - 10.1016/j.nmd.2011.12.001
M3 - Article
C2 - 22245016
AN - SCOPUS:84860580533
VL - 22
SP - 534
EP - 540
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 6
ER -