Labrador Retriever — Muscular dystrophy-dystroglycanopathy, LARGE1-related (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_labrador_retriever_omia4760_dog category: companion-breed-health title: "Labrador Retriever — Muscular dystrophy-dystroglycanopathy, LARGE1-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/labrador_retriever_omia4760_4760.txt date_parsed: 2026-08-02 tokens_estimated: 265 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_labrador_retriever_omia4760_dog/01_companion_breed_health_labrador_retriever_omia4760_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Labrador Retriever — Muscular dystrophy-dystroglycanopathy, LARGE1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002460/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Labrador Retriever — Muscular dystrophy-dystroglycanopathy, LARGE1-related (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Labrador Retriever (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Clin feat: Four affected Labrador retriever puppies ... were evaluated for small stature, poor weight gain, bow legged stance, poor suckling, and weakness. In the first week 4 pups required supplemental tube feeding due to poor weight gain, and difficulties in prehension of food and swallowing. One of these 4 pups died during the first week and another pup was euthanized at 2.5 weeks of age. At the time of euthanasia at 6 weeks of age, body weights of the two remaining affected pups were half that of the normal pups (1.3 and 1.4 kg compared to 2.7–2.9 kg). ... Serum CK activities were markedly elevated in all affected pups ranging from 10,587 to 23,638 IU/L (reference 59–895 IU/L). (Shelton et al. 2021)
• Defect: yes
• Pathology: Histopathology of skeletal muscle cryosections ... showed degenerative and regenerative changes consistent with a dystrophic phenotype (Shelton et al. 2021).

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 388243435 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 2021. Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation. Neuromuscul Disord — PubMed:PMID34654610 | DOI:10.1016/j.nmd.2021.07.016 — OMIA Phene_Article / Article
• 2012. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science — PubMed:PMID22223806 | DOI:10.1126/science.1214115 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:603590 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:613154 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:608840 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."