Congenital muscular dystrophy in a dog with a LAMA2 gene deletion

G. Diane Shelton, Katie M. Minor, Stephanie Thomovsky, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, James R. Mickelson

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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 languageEnglish (US)
Pages (from-to)279-284
Number of pages6
JournalJournal of veterinary internal medicine
Issue number1
StatePublished - 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


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