Open AccessCongenital muscular dystrophy in a dog with a LAMA2 gene deletion
Author(s) -
Shelton G. Diane,
Minor Katie M.,
Thomovsky Stephanie,
Guo Ling T.,
Friedenberg Steven G.,
Cullen Jonah N.,
Mickelson James R.
Publication year - 2021
Publication title -
journal of veterinary internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.356
H-Index - 103
eISSN - 1939-1676
pISSN - 0891-6640
DOI - 10.1111/jvim.16330
Subject(s) - medicine , muscular dystrophy , congenital muscular dystrophy , muscle biopsy , pathology , creatine kinase , laminin , myopathy , biopsy , genetics , biology , cell
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.