Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

The collagen VI-related muscular dystrophies in people include a broad spectrum of severities ranging from the severe Ullrich congenital muscular dystrophy to the mild type Bethlem [1]. Ullrich congenital muscular dystrophy is rare but is among the most common type of congenital muscular dystrophies in several populations [1,2]. In northern England, the collagen VI-related myopathies have a point prevalence of 0.9 patients for 100,000 individuals [3]. These diseases are caused by both dominantly and recessively acting variants in the three major α-chains encoded by the collagen VI genes COL6A1, COL6A2 and COL6A3, which associate in equal stoichiometry to form a heterotrimeric monomer followed by further assembly to a tetrameric structure, which is then secreted into the extracellular matrix by fibroblastic cells in muscle and other connect ive tissues such as tendon.

Source: Neuromuscular Disorders - April 15, 2020 Category: Neurology Authors: V éronique Bolduc, Katie M. Minor, Ying Hu, Rupleen Kaur, Steven G. Friedenberg, Samantha Van Buren, Ling T Guo, Joseph Glennon, Katia Marioni-Henry, James R Mickelson, Carsten G Bönnemann, G. Diane Shelton Source Type: research