{"topic_id":"companion_breed_health_boston_terrier_omia4053_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_boston_terrier_omia4053_dog\ncategory: companion-breed-health\ntitle: \"Boston Terrier — Muscular dystrophy, limb-girdle, type R6 (LGMDR6) (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/boston_terrier_omia4053_4053.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 333\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_boston_terrier_omia4053_dog/01_companion_breed_health_boston_terrier_omia4053_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Boston Terrier — Muscular dystrophy, limb-girdle, type R6 (LGMDR6) (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002122/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Boston Terrier — Muscular dystrophy, limb-girdle, type R6 (LGMDR6) (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Boston Terrier (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal recessive`\n- `Clin feat: Cox et al. (2017): marked muscle weakness and atrophy in the shoulder and hips during puppyhood Brunetti et al. (2023): An 8-month-old female Lagotto Romagnolo dog was presented with a 1-month history of an initial severe reluctance to move ... , the dog rapidly ... [progressed] to a marked stiff gait. Dysphagia, dysphonia and polyuria and polydipsia appeared in the last five days prior to the examination. ... The dog showed a progressive rapid worsening of the clinical signs leading in approximately one month to a severe non-ambulatory tetraparesis and severe dysphagia.`\n- `Defect: yes`\n- `Pathology: Brunetti et al. (2023) reported pathologal findings of a single affected Lagotto Romagnolo dog: Macroscopically, the muscles were moderately atrophic, except for the diaphragm and the neck muscles, which were markedly thickened. Histologically, all the skeletal muscles examined showed atrophy, hypertrophy, necrosis with calcification of the fibers, and mild fibrosis and inflammation. On immunohistochemistry, all three dystrophin domains and sarcoglycan proteins were absent. On Western blot analysis, no band was present for delta sarcoglycan.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 388306478 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n\n## Evidence (references)\nDerived 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.\n- 2004. Newly identified neuromuscular disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID15474686 | DOI:10.1016/j.cvsm.2004.06.001 — OMIA Phene_Article / Article\n- 2008. Sarcoglycan-deficient muscular dystrophy in a Boston Terrier. J Vet Intern Med — PubMed:PMID18371037 | DOI:10.1111/j.1939-1676.2008.0080.x — OMIA Phene_Article / Article\n- 2017. Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skelet Muscle — PubMed:PMID28702169 | DOI:10.1186/s13395-017-0131-0 — OMIA Phene_Article / Article\n- 2023. SGCD missense variant in a Lagotto Romagnolo dog with autosomal recessively inherited limb-girdle muscular dystrophy. Genes (Basel) — PubMed:PMID37628692 | DOI:10.3390/genes14081641 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:601287 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:601411 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Boston Terrier — Muscular dystrophy, limb-girdle, type R6 (LGMDR6) (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Boston Terrier — Muscular dystrophy, limb-girdle, type R6 (LGMDR6) (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/15474686/","retrieved":"","ref":"PMID 15474686","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":789,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}