TY - JOUR
T1 - Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis
AU - Petrini, Stefania
AU - D'Amico, Adele
AU - Sale, Patrizio
AU - Lucarini, Laura
AU - Sabatelli, Patrizia
AU - Tessa, Alessandra
AU - Giusti, Betti
AU - Verardo, Margherita
AU - Carrozzo, Rosalba
AU - Mattioli, Elisabetta
AU - Scarpelli, Marina
AU - Chu, Mon Li
AU - Pepe, Guglielmina
AU - Russo, Matteo Antonio
AU - Bertini, Enrico
PY - 2007/8
Y1 - 2007/8
N2 - Ullrich congenital muscular dystrophy (UCMD) is clinically characterized by muscle weakness, proximal contractures and distal hyperlaxity and morphologically branded by absence or reduction of collagen VI (ColVI), in muscle and in cultured fibroblasts. The ColVI defect is generally related to COL6 genes mutations, however UCDM patients without COL6 mutations have been recently reported, suggesting genetic heterogeneity. We report comparative morphological findings between a UCMD patient harboring a homozygous COL6A2 mutation and a patient with a typical UCMD phenotype in which mutations in COL6 genes were excluded. The patient with no mutations in COL6 genes exhibited a partial ColVI defect, which was only detected close to the basal membrane of myofibers. We describe how confocal microscopy and rotary-shadowing electron microscopy may be useful to identify a secondary ColVI defect.
AB - Ullrich congenital muscular dystrophy (UCMD) is clinically characterized by muscle weakness, proximal contractures and distal hyperlaxity and morphologically branded by absence or reduction of collagen VI (ColVI), in muscle and in cultured fibroblasts. The ColVI defect is generally related to COL6 genes mutations, however UCDM patients without COL6 mutations have been recently reported, suggesting genetic heterogeneity. We report comparative morphological findings between a UCMD patient harboring a homozygous COL6A2 mutation and a patient with a typical UCMD phenotype in which mutations in COL6 genes were excluded. The patient with no mutations in COL6 genes exhibited a partial ColVI defect, which was only detected close to the basal membrane of myofibers. We describe how confocal microscopy and rotary-shadowing electron microscopy may be useful to identify a secondary ColVI defect.
KW - Collagen VI defects
KW - Confocal imaging
KW - Rotary-shadowing electron microscopy
KW - Ullrich congenital muscular dystrophy
UR - http://www.scopus.com/inward/record.url?scp=34447291815&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34447291815&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2007.04.010
DO - 10.1016/j.nmd.2007.04.010
M3 - Article
C2 - 17588753
AN - SCOPUS:34447291815
VL - 17
SP - 587
EP - 596
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 8
ER -