Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.

Abstract

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.

• Authors: Stefania Petrini, Adele D'Amico, Patrizio Sale, Laura Lucarini, Patrizia Sabatelli, Alessandra Tessa, Betti Giusti, Margherita Verardo, Rosalba Carrozzo, Elisabetta Mattioli, Marina Scarpelli, Mon-Li Chu, Guglielmina Pepe, Matteo Antonio Russo, Enrico Bertini
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 17 Issue 8 Pg. 587-96 (Aug 2007) ISSN: 0960-8966 [Print] England
• PMID: 17588753 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Collagen Type VI

Topics

• Biopsy
• Cells, Cultured
• Child
• Collagen Type VI (genetics)
• Female
• Fibroblasts (pathology)
• Genetic Heterogeneity
• Homozygote
• Humans
• Microscopy, Confocal
• Microscopy, Electron
• Muscle, Skeletal (pathology)
• Muscular Dystrophies (genetics, pathology)
• Myofibrils (pathology, ultrastructure)
• Phenotype
• Skin (pathology)