Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.
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.
Petrini
Stefania
S
Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesù Paediatric Hospital IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. petrini.s@tiscalinet.it
D'Amico
Adele
A
Sale
Patrizio
P
Lucarini
Laura
L
Sabatelli
Patrizia
P
Tessa
Alessandra
A
Giusti
Betti
B
Verardo
Margherita
M
Carrozzo
Rosalba
R
Mattioli
Elisabetta
E
Scarpelli
Marina
M
Chu
Mon-Li
ML
Pepe
Guglielmina
G
Russo
Matteo Antonio
MA
Bertini
Enrico
E
D001706:Biopsy; D002478:Cells, Cultured; D002648:Child; D024142:Collagen Type VI / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D018740:Genetic Heterogeneity; D006720:Homozygote; D006801:Humans; D018613:Microscopy, Confocal; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology*; D009210:Myofibrils / Q000473:pathology / Q000648:ultrastructure; D010641:Phenotype; D012867:Skin / Q000473:pathology
D024142:Collagen Type VI