Predominant fiber atrophy and fiber type disproportion in early ullrich disease

Muscle & Nerve
Joachim SchesslCarsten G Bönnemann

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.

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Citations

Feb 18, 2009·Journal of Neurology·N C VoermansB G van Engelen
Jun 22, 2011·Nature Reviews. Neurology·Carsten G Bönnemann
Dec 18, 2013·Current Rheumatology Reports·Rebekah JoblingPeter Kannu
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Sep 27, 2014·Muscle & Nerve·Lucia RuggieroLucio Santoro
Mar 4, 2014·Neuromuscular Disorders : NMD·Carsten G BönnemannUNKNOWN Members of International Standard of Care Committee for Congenital Muscular Dystrophies
Jun 19, 2014·Journal of Neurology, Neurosurgery, and Psychiatry·Takahiro Yonekawa, Ichizo Nishino
Oct 30, 2014·Frontiers in Physiology·Aziz GuellichCatherine Coirault
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Mar 31, 2009·Arquivos de neuro-psiquiatria·Umbertina Conti Reed
Nov 4, 2021·Annals of Clinical and Translational Neurology·Eleonora GuadagninCarsten G Bönnemann

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