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Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. (Articolo in rivista)

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Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. (Articolo in rivista) (literal)

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Petrini S, D'Amico A, Sale P, Lucarini L, Sabatelli P, Tessa A, Giusti B,Verardo M, Carrozzo R, Mattioli E, Scarpelli M, Chu ML, Pepe G, Russo MA, Bertini E. (2007)
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.
in Neuromuscular disorders
(literal)

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Petrini S, D'Amico A, Sale P, Lucarini L, Sabatelli P, Tessa A, Giusti B,Verardo M, Carrozzo R, Mattioli E, Scarpelli M, Chu ML, Pepe G, Russo MA, Bertini E. (literal)

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Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesù Paediatric Hospital IRCCS, Rome, Italy; Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Italy; IRCCS San Raffaele, La Pisana, Roma, Italy; Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy; ITOI-CNR, Unit of Bologna c/o IOR, Bologna, Italy; Section of Pathological Anatomy and Histopathology, School of Medicine, Polytechnic University f the Marche Region, Ancona, Italy; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. (literal)

Titolo

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

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. (literal)

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