{"doi":"10.1111/jvim.16330","title":"Congenital muscular dystrophy in a dog with a <i>LAMA2</i> gene deletion","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.","journal":"Journal of Veterinary Internal Medicine","year":2021,"id":205966,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9514,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":414481,"name":"Katie M. Minor","orcid":"0000-0002-5472-5088","position":1,"is_corresponding":false},{"id":789820,"name":"Stephanie A. Thomovsky","orcid":"0000-0001-8794-5098","position":2,"is_corresponding":false},{"id":415956,"name":"Ling T. Guo","orcid":"0000-0002-2935-2646","position":3,"is_corresponding":false},{"id":383124,"name":"Steven G. Friedenberg","orcid":"0000-0002-7510-2322","position":4,"is_corresponding":false},{"id":766974,"name":"Jonah N. Cullen","orcid":"0000-0001-5144-8524","position":5,"is_corresponding":false},{"id":414485,"name":"James R. Mickelson","orcid":"0000-0001-6951-0234","position":6,"is_corresponding":false},{"id":308935,"name":"G. Diane Shelton","orcid":"0000-0002-3332-1359","position":0,"is_corresponding":true}],"reference_count":25,"raw_metadata":null,"created_at":"2026-07-18T23:51:37.630221Z","pmid":"34854126","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}