Title: Predominant fiber atrophy and fiber type disproportion in early Ullrich disease
Authors: Schessl, Joachim ×
Goemans, Nathalie
Magold, Alexandra I
Zou, Yaqun
Hu, Ying
Kirschner, Janbernd
Sciot, Raphael
Bonnemann, Carsten G #
Issue Date: Sep-2008
Publisher: John wiley & sons inc
Series Title: Muscle & nerve vol:38 issue:3 pages:1184-1191
Abstract: Ullrich disease (congenital muscular dystrophy type Ullrich, UCMD) is a severe congenital disorder of muscle caused by recessive and dominant mutations in the three genes that encode the alpha-chains of Collagen type VI. Little is known about the early pathogenesis of this myopathy. The aim of this study was to investigate early histological changes in muscle of patients with molecularly confirmed UCMD. Muscle biopsies were analyzed from 8 UCMD patients ranging in age from 6 to 30 months. Type I fiber atrophy and predominance were seen early, together with a widening of the fiber diameter spectrum, whereas no dystrophic features were apparent. A subpopulation of more severely atrophic type I fibers was apparent subsequently, including one biopsy that fulfilled the formal diagnostic criteria of histopathological fiber type disproportion (FTD). Thus, early in the disease, UCMD presents as a non-dystrophic myopathy with predominant fiber atrophy. Collagen VI mutations also qualify as a cause of fiber type disproportion.
ISSN: 0148-639X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Organ Systems (+)
Translational Cell & Tissue Research
× corresponding author
# (joint) last author

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