{"topic_id":"companion_species_health_myotubular_myopathy_1_cat","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_myotubular_myopathy_1_cat\ncategory: companion-species-health\ntitle: \"Cat (Felis catus) — Myotubular myopathy 1 (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_myotubular_myopathy_1_4975.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 327\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_myotubular_myopathy_1_cat/01_companion_species_health_myotubular_myopathy_1_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) — Myotubular myopathy 1 (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA001508/9685/\"\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) — Myotubular myopathy 1 (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: Myotubular myopathy 1`\n- `Clin feat: Kopke et al. (2022): \"A 7-month-old male Maine coon was evaluated for progressively worsening gait abnormalities and generalized weakness. Neurolocalization was to the neuromuscular system. Genetic testing for spinal muscular atrophy (LIX1) was negative. Given the progressive nature and suspected poor long-term prognosis, the owners elected euthanasia. Histopathology of skeletal muscle obtained post-mortem disclosed numerous rounded atrophic or hypotrophic fibers with internal nuclei or central basophilic staining. Using oxidative reactions mediated by cytochrome C oxidase and succinic dehydrogenase, scattered myofibers were observed to have central dark staining structures and a “ring-like” appearance. Given the cat's age and clinical history, a congenital myopathy was considered most likely, with the central nuclei and “ring-like” changes consistent with either centronuclear or myotubular myopathy. \"`\n- `Prevalence: Kopke et al. (2022): \"Besides the 339 cats and the reference genome cats without the variant, the variant additionally was genotyped by direct Sanger sequencing and not identified in 11 unrelated Maine coon cats, 1 random bred cat, and 1 cat of a different breed.\"`\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 389723396 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Kopke et al. (2022) reported that \"Whole genome sequencing [of the single affected male Maine Coon cat] identified an underlying missense variant [omia.variant:1475] in myotubularin 1 (MTM1), a known candidate gene for X-linked myotubular myopathy.\"\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- 2022. X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat. J Vet Intern Med — PubMed:PMID35962713 | DOI:10.1111/jvim.16509 — 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:310400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:300415 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Cat (Felis catus) — Myotubular myopathy 1 (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Cat (Felis catus) — Myotubular myopathy 1 (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/35962713/","retrieved":"","ref":"PMID 35962713","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":769,"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."}