Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion Encompassing DMD Exon 5

This study adds a new breed to the canine dystrophinopathy spectrum having a ~17 kb deletion that encompasses exon 5 of <i>DMD.</i> This same exon 5 deletion has been identified in human dystrophin-deficient muscular dystrophy patients.

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Publication Details

Journal
Genes
Published
2025-11-11
DOI
https://doi.org/10.3390/genes16111369
Primary Topic
Muscle Physiology and Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion Encompassing DMD Exon 5

G. Diane Shelton, Katie M. Minor, Steven G. Friedenberg, Jonah N. Cullen et al.
Genes
Muscle Physiology and Disorders
article

Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion Encompassing DMD Exon 5

G. Diane Shelton, Katie M. Minor, Steven G. Friedenberg, Jonah N. Cullen, Ling T. Guo, Laura Mcleay, Simone Hardinge
article en

Abstract

This study adds a new breed to the canine dystrophinopathy spectrum having a ~17 kb deletion that encompasses exon 5 of <i>DMD.</i> This same exon 5 deletion has been identified in human dystrophin-deficient muscular dystrophy patients.

GenesVol. 16(11)
University of Minnesota (US), University of California San Diego (US), TissuPath (AU), Animal, Food and Health Sciences (AU)
U.S. Department of Agriculture, National Institutes of Health, National Institute of Food and Agriculture
Openalex Percentile: Top 70%
Muscle Physiology and Disorders
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