{"topic_id":"companion_species_health_muscular_dystrophy_dystroglycanopathy_limb_girdle_cat","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_muscular_dystrophy_dystroglycanopathy_limb_girdle_cat\ncategory: companion-species-health\ntitle: \"Cat (Felis catus) — Muscular dystrophy-dystroglycanopathy (limb-girdle) (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/cat_muscular_dystrophy_dystroglycanopathy_limb_girdle_3165.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 204\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_muscular_dystrophy_dystroglycanopathy_limb_girdle_cat/01_companion_species_health_muscular_dystrophy_dystroglycanopathy_limb_girdle_cat.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: \"Cat (Felis catus) — Muscular dystrophy-dystroglycanopathy (limb-girdle) (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA001621/9685/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-specific disorder entries)\"\n  needs_review: false\n\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\n# Cat (Felis catus) — Muscular dystrophy-dystroglycanopathy (limb-girdle) (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Cat (Felis catus)`\n- `Disorder: Muscular dystrophy-dystroglycanopathy (limb-girdle)`\n- `Mode of inheritance: Robinson (1992) provided evidence of autosomal recessive inheritance.`\n- `Prevalence: Abitol et al. (2015): \"Genotyping of a panel of 333 cats from 14 breeds failed to identify a single carrier in non-Sphynx and non-Devon Rex cats. Finally, the percentage of healthy carriers in a European subpanel of 81 genotyped Sphynx cats was estimated to be low (3.7%) and 14 control Devon Rex cats were genotyped as wild-type individuals.\" Gandolfi et al. (2015): \"Eight Devon Rex and one Sphynx not associated with the study were identified as carriers, suggesting an allele frequency of ~2.0% in Devon Rex. Over 350 tested cats from other breeds did not have the variant.\"`\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 389722932 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Martin et al. (2008) reported a deficiency of alpha-dystroglycan in affected cats but could find no causative mutation in the DAG1 gene that encodes this peptide. Abitbol et al. (2015) conducted \"a genome-wide SNP-based homozygosity mapping strategy\" on \"two affected Sphynx cats and their relatives\", and identified \"A homozygous c.1190G&gt;A missense variant [omia.variant:944] located in exon 15 o…\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- 1992. Spasticity in the Devon Rex Cat. Vet Rec — PubMed:PMID1595149 | DOI:10.1136/vr.130.14.302-a — OMIA Phene_Article / Article\n- 1993. Hereditary myopathy of Devon rex cats. Journal of Small Animal Practice — OMIA Phene_Article / Article\n- 2005. Canine and feline models of human inherited muscle diseases. Neuromuscul Disord — PubMed:PMID15694134 | DOI:10.1016/j.nmd.2004.10.019 — OMIA Phene_Article / Article\n- 2008. Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscul Disord — PubMed:PMID18990577 | DOI:10.1016/j.nmd.2008.08.002 — OMIA Phene_Article / Article\n- 1989. Episodic collapse and weakness in cats. Veterinary Annual — OMIA Phene_Article / Article\n- 2007. Myopathy with tubulin-reactive inclusions in two cats. Acta Neuropathol — PubMed:PMID17393175 | DOI:10.1007/s00401-007-0217-6 — OMIA Phene_Article / Article\n- 2015. A COLQ missense mutation in Sphynx and Devon rex cats with congenital myasthenic syndrome. PLoS One — PubMed:PMID26327126 | DOI:10.1371/journal.pone.0137019 — OMIA Phene_Article / Article\n- 2015. COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet — PubMed:PMID26374066 | DOI:10.1111/age.12350 — OMIA Phene_Article / Article\n- 2022. Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet — PubMed:PMID35709088 | DOI:10.1371/journal.pgen.1009804 — OMIA Phene_Article / Article\n- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:603034 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:603033 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Cat (Felis catus) — Muscular dystrophy-dystroglycanopathy (limb-girdle) (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Cat (Felis catus) — Muscular dystrophy-dystroglycanopathy (limb-girdle) (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/1595149/","retrieved":"","ref":"PMID 1595149","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":947,"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."}