Golden Retriever — Congenital myasthenic syndromes (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_golden_retriever_congenital_myasthenic_syndromes_dog category: companion-breed-health title: "Golden Retriever — Congenital myasthenic syndromes (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/golden_retriever_congenital_myasthenic_syndromes_3721.txt date_parsed: 2026-08-02 tokens_estimated: 418 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_golden_retriever_congenital_myasthenic_syndromes_dog/01_companion_breed_health_golden_retriever_congenital_myasthenic_syndromes_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: "Golden Retriever — Congenital myasthenic syndromes (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001928/9615/" 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

Golden Retriever — Congenital myasthenic syndromes (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: Golden Retriever (Dog)
• Disorder: Congenital myasthenic syndromes
• Mode of inheritance: Autosomal recessive
• Clin feat: Affected puppies present with a history of generalised skeletal muscle weakness and fatigue with an onset in the first weeks to months of life (Mignan et al., 2020). As reported by Rinz et al. (2014): Neurological examination was consistent with a generalized neuromuscular disease with marked short-strided tetraparesis that worsened with exercise. Postural reactions were preserved with the exception of hopping which was diminished in all limbs when the puppies were made to bear full weight. Spinal reflexes including the patellar, cranial tibial, and flexor withdrawals were reduced in all limbs. A pyridostigmine bromide challenge resulted in worsening of muscle weakness. Clinical signs often progress despite treatment, and most reported cases have resulted in death or euthanasia of affected puppies (Mignan et al., 2020). [IT thanks DVM student Lily Cai for contributions in April 2022]
• Defect: yes
• Pathology: As a result of the COLQ mutation, acetylcholinesterase is anchored to the basal lamina of the neuromuscular junction (NMJ). Measurement of the compound muscle action potential through electrodiagnostic testing after repetitive nerve stimulation shows a decremental response, which is consistent with failure of neuromuscular transmission (Tsai et al., 2020). A NMJ antibody testing for acetylcholinesterase is negative (Mignan et al., 2020). [IT thanks DVM student Lily Cai, who provided the basis of this contribution in April 2022]

Associated gene(s)

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.

• Gene: COLQ (Entrez Gene ID 388304030) — OMIA Phene_Gene / GeneSynonym

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.

• 2014. A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome. PLoS One — PubMed:PMID25166616 | DOI:10.1371/journal.pone.0106425 — OMIA Phene_Article / Article
• 2020. Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. J Vet Intern Med — PubMed:PMID31769119 | DOI:10.1111/jvim.15667 — OMIA Phene_Article / Article
• 2020. Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats. J Vet Intern Med — PubMed:PMID32668077 | DOI:10.1111/jvim.15855 — OMIA Phene_Article / Article
• 2016. Myasthenia gravis and congenital myasthenic syndromes in dogs and cats: A history and mini-review. Neuromuscul Disord — PubMed:PMID27080328 | DOI:10.1016/j.nmd.2016.03.002 — OMIA Phene_Article / Article
• 2018. Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms. Ann N Y Acad Sci — PubMed:PMID29405353 | DOI:10.1111/nyas.13595 — 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:603034 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:603033 (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."