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

Véronique Bolduc, Katie M Minor, Ying Hu, Rupleen Kaur, Steven G Friedenberg, Samantha Van Buren, Ling T Guo, Joseph C Glennon, Katia Marioni-Henry, James R Mickelson, Carsten G Bönnemann, G Diane Shelton

Research output: Contribution to journalArticlepeer-review

Abstract

The collagen VI-related muscular dystrophies in people include a broad spectrum of diseases ranging from the severe Ullrich congenital muscular dystrophy to the mild Bethlem myopathy. Clinical features are attributable to both muscle and connective tissue and include progressive muscle weakness and respiratory failure, hyperlaxity of distal joints, and progressive contracture of large joints. Here we describe two different COL6A3 pathogenic variants in Labrador Retriever dogs that result in autosomal recessive or autosomal dominant congenital myopathies with hyperlaxity of distal joints and joint contracture, similar to the condition in people.

Original languageEnglish
JournalNeuromuscular Disorders
Early online date16 Apr 2020
DOIs
Publication statusE-pub ahead of print - 16 Apr 2020

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