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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)587-596
Number of pages10
JournalNeuromuscular Disorders
Volume17
Issue number8
DOIs
Publication statusPublished - Aug 2007

Keywords

  • Collagen VI defects
  • Confocal imaging
  • Rotary-shadowing electron microscopy
  • Ullrich congenital muscular dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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