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

doi:10.1016/j.nmd.2020.03.005

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

Royal (Dick) School of Veterinary Studies

Research output: Contribution to journal › Article › peer-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 language	English
Journal	Neuromuscular Disorders
Early online date	16 Apr 2020
DOIs	https://doi.org/10.1016/j.nmd.2020.03.005
Publication status	E-pub ahead of print - 16 Apr 2020

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10.1016/j.nmd.2020.03.005

NMD-S-20-00013(3)Accepted author manuscript, 1.49 MBLicence: Creative Commons: Attribution-NonCommercial-NoDerivatives (CC BY-NC-ND)

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Bolduc, Véronique ; Minor, Katie M ; Hu, Ying ; Kaur, Rupleen ; Friedenberg, Steven G ; Van Buren, Samantha ; Guo, Ling T ; Glennon, Joseph C ; Marioni-Henry, Katia ; Mickelson, James R ; Bönnemann, Carsten G ; Shelton, G Diane. / Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. In: Neuromuscular Disorders. 2020.

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title = "Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs",

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.",

author = "V{\'e}ronique Bolduc and Minor, {Katie M} and Ying Hu and Rupleen Kaur and Friedenberg, {Steven G} and {Van Buren}, Samantha and Guo, {Ling T} and Glennon, {Joseph C} and Katia Marioni-Henry and Mickelson, {James R} and B{\"o}nnemann, {Carsten G} and Shelton, {G Diane}",

year = "2020",

month = apr,

day = "16",

doi = "10.1016/j.nmd.2020.03.005",

language = "English",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Limited",

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Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. / Bolduc, Véronique; Minor, Katie M; Hu, Ying; Kaur, Rupleen; Friedenberg, Steven G; Van Buren, Samantha; Guo, Ling T; Glennon, Joseph C; Marioni-Henry, Katia; Mickelson, James R; Bönnemann, Carsten G; Shelton, G Diane.

In: Neuromuscular Disorders, 16.04.2020.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

AU - Bolduc, Véronique

AU - Minor, Katie M

AU - Hu, Ying

AU - Kaur, Rupleen

AU - Friedenberg, Steven G

AU - Van Buren, Samantha

AU - Guo, Ling T

AU - Glennon, Joseph C

AU - Marioni-Henry, Katia

AU - Mickelson, James R

AU - Bönnemann, Carsten G

AU - Shelton, G Diane

PY - 2020/4/16

Y1 - 2020/4/16

N2 - 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.

AB - 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.

U2 - 10.1016/j.nmd.2020.03.005

DO - 10.1016/j.nmd.2020.03.005

M3 - Article

C2 - 32439203

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

ER -

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

Abstract

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