Abstract
A 2-year-old female spayed dog was presented with a chronic history of short-strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.
Original language | English (US) |
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Pages (from-to) | 279-284 |
Number of pages | 6 |
Journal | Journal of veterinary internal medicine |
Volume | 36 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1 2022 |
Bibliographical note
Funding Information:NIH Career Development Award, Grant/Award Number: K01 OD027058 Funding information
Publisher Copyright:
© 2021 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.
PubMed: MeSH publication types
- Case Reports