--- license: permission_granted topic_id: companion_breed_health_french_bulldog_omia5907_dog category: companion-breed-health title: "French Bulldog — Muscle hypertrophy, dysphagia, and gait abnormalities (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/french_bulldog_omia5907_5907.txt date_parsed: 2026-08-02 tokens_estimated: 196 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_french_bulldog_omia5907_dog/01_companion_breed_health_french_bulldog_omia5907_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: "French Bulldog — Muscle hypertrophy, dysphagia, and gait abnormalities (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002839/9615/" 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
French Bulldog — Muscle hypertrophy, dysphagia, and gait abnormalities (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: French Bulldog (Dog)Disorder: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.Defect: yes
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 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
Comparative medicine (human OMIM)
Derived 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.
- OMIM:600128 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.
- 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
Comparative medicine (human OMIM)
Derived 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.
- OMIM:600128 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
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.
- 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
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:600128 (type: gene) — 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."
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.
- 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
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:600128 (type: gene) — 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."
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.
- 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
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:600128 (type: gene) — 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."