{"topic_id":"companion_breed_health_french_bulldog_omia5907_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_french_bulldog_omia5907_dog\ncategory: companion-breed-health\ntitle: \"French Bulldog — Muscle hypertrophy, dysphagia, and gait abnormalities (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/french_bulldog_omia5907_5907.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 196\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_french_bulldog_omia5907_dog/01_companion_breed_health_french_bulldog_omia5907_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: \"French Bulldog — Muscle hypertrophy, dysphagia, and gait abnormalities (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002839/9615/\"\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# French Bulldog — Muscle hypertrophy, dysphagia, and gait abnormalities (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: French Bulldog (Dog)`\n- `Disorder: `\n- `Summary: Shelton et al. (2024) describe 4 French Bulldogs with muscle hypertrophy, swallowing disorders, and gait abnormalities. Two of the dogs had a likely causal variant in the CLCN1 gene (see a href=../../../../OMIA000698/9615/OMIA:000698-9615/a : Myotonia in Canis lupus familiaris for details). Whole genome sequencing in one dog identified a variant in emPDE4Cnbsp;/em[c15dup; XP_038422764.1:p.A6Rfs*46], which is the major phosphodiesterase expressed in skeletal muscle and may play a role in decreasing muscle atrophy. In one case for which whole genome sequencing was not performed, genotyping for the identified variants was not confirmed.`\n- `Defect: yes`\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs.. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.\n- OMIM:600128 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.\n- OMIM:600128 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\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- 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — 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:600128 (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## 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- 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — 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:600128 (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## 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- 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — 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:600128 (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 — French Bulldog — Muscle hypertrophy, dysphagia, and gait abnormalities (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"French Bulldog — Muscle hypertrophy, dysphagia, and gait abnormalities (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/38473107/","retrieved":"","ref":"PMID 38473107","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":1072,"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."}