{"topic_id":"companion_breed_health_mixed_breed_omia6857_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_mixed_breed_omia6857_dog\ncategory: companion-breed-health\ntitle: \"Mixed Breed — Myopathy, creatine deficiency disorder, GATM-related (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/mixed_breed_omia6857_6857.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 234\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_mixed_breed_omia6857_dog/01_companion_breed_health_mixed_breed_omia6857_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: \"Mixed Breed — Myopathy, creatine deficiency disorder, GATM-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA003056/9615/\"\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# Mixed Breed — Myopathy, creatine deficiency disorder, GATM-related (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: Mixed Breed (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal recessive`\n- `Clin feat: Leonardi et al. (2026): Clinical signs included megaesophagus with generalized muscle atrophy in both affected dogs. One dog showed exercise intolerance. Computed tomography (CT) scan revealed bilateral and symmetrical diffuse hypoattenuating muscle lesions. Electromyography was characterized by nonspecific abnormal spontaneous activity in electrodiagnostically affected muscles. ... All clinical signs improved after 3 days of creatine (800-1500 mg/kg/day) andbrL-carnitine (80-150 mg/kg) supplementation and remained stable at the time of writing 4 months after diagnosis.`\n- `Defect: yes`\n- `Pathology: Leonardi et al. (2026): Type2 fiber atrophy and excessive intramyofiber lipid droplets in type1muscle fibers were the predominant findings in histopathology.`\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 398299104 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Leonardi et al. (2026) report 3 dogs from the same litter wiht myopathy. Whole genome sequencing identified a likely causal missense variant in <em>GATM (</em>NP 001274013.1:p.R414C, omia.variant:1899).&nbsp;\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- 2026. Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation. J Vet Intern Med — PubMed:PMID41742483 | DOI:10.1093/jvimsj/aalaf055 — OMIA Phene_Article / Article\n- 2026. Correction to: Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation. J Vet Intern Med — PubMed:PMID42089721 | DOI:10.1093/jvimsj/aalag102 — 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:602360 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:612718 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:134600 (type: trait) — 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 — Mixed Breed — Myopathy, creatine deficiency disorder, GATM-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Mixed Breed — Myopathy, creatine deficiency disorder, GATM-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/41742483/","retrieved":"","ref":"PMID 41742483","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":708,"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."}