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Article

Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory.

Journal of equine veterinary science - 1 Nov 2022

Aleman Monica, Scalco Rebeca, Malvick Julia, Grahn Robert A, True Alexander, Bellone Rebecca R

Abstract excerpt

Deleterious genetic variants are an important cause of skeletal muscle disease. Immunohistochemical evaluation of muscle biopsies is standard for the diagnosis of muscle disorders. The prevalence of alleles causing hyperkalemic periodic paralysis (HYPP), malignant hyperthermia (MH), polysaccharide storage myopathy 1 (PSSM1), glycogen branching enzyme deficiency (GBED), myotonia congenita (MC), and myosin heavy...

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Identifiers

PMID: 36150530
DOI: 10.1016/j.jevs.2022.104129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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