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 (US)
Pages (from-to)360-367
Number of pages8
JournalNeuromuscular Disorders
Volume30
Issue number5
DOIs
StatePublished - May 2020

Bibliographical note

Funding Information:
SGF is supported in part by an NIH Special Emphasis Research Career Award ( 1 K01 OD027058 ) in Pathology and Comparative Medicine sponsored by the Division of Comparative Medicine, Office of Research Infrastructure Programs. This research was supported (in part) by the Intramural Research Program of the NIH, NINDS.

Funding Information:
SGF is supported in part by an NIH Special Emphasis Research Career Award (1 K01 OD027058) in Pathology and Comparative Medicine sponsored by the Division of Comparative Medicine, Office of Research Infrastructure Programs. This research was supported (in part) by the Intramural Research Program of the NIH, NINDS.

Publisher Copyright:
© 2020 Elsevier B.V.

Keywords

  • Canine
  • Collagen VI
  • Muscle
  • Myopathy

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