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

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• 作者：Stefania Petrini ; Adele D’ ; Amico ; Patrizio Sale ; Laura Lucarini ; Patrizia Sabatelli ; Aless ; ra Tessa ; Betti Giusti ; Margherita Verardo ; Rosalba Carrozzo ; Elisabetta Mattioli ; Marina Scarpelli ; Mo
• 关键词：Confocal imaging ; Rotary-shadowing electron microscopy ; Ullrich congenital muscular dystrophy ; Collagen VI defects
• 刊名：Neuromuscular Disorders
• 出版年：2007
• 期刊代码：203_09608966
• 类别：med
• 出版时间：August 2007
• 卷：17
• 期：8
• 页码：587-596
• 文件大小：437 K

摘要

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.