X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat

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dc.citation.issue5
dc.citation.volume36
dc.contributor.authorKopke MA
dc.contributor.authorShelton GD
dc.contributor.authorLyons LA
dc.contributor.authorWall MJ
dc.contributor.authorPemberton S
dc.contributor.authorGedye KR
dc.contributor.authorOwen R
dc.contributor.authorGuo LT
dc.contributor.authorBuckley RM
dc.contributor.authorValencia JA
dc.contributor.author99 Lives Consortium
dc.contributor.authorJones BR
dc.coverage.spatialUnited States
dc.date.accessioned2024-02-01T00:54:08Z
dc.date.accessioned2024-07-25T06:33:02Z
dc.date.available2022-08-13
dc.date.available2024-02-01T00:54:08Z
dc.date.available2024-07-25T06:33:02Z
dc.date.issued2022-09-26
dc.description.abstractOBJECTIVE: Describe the clinical course and diagnostic and genetic findings in a cat with X-linked myotubular myopathy. CASE SUMMARY: 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. Whole genome sequencing identified an underlying missense variant in myotubularin 1 (MTM1), a known candidate gene for X-linked myotubular myopathy. NEW OR UNIQUE INFORMATION PROVIDED: This case is the first report of X-linked myotubular myopathy in a cat with an MTM1 missense mutation. Maine coon cat breeders may consider screening for this variant to prevent production of affected cats and to eradicate the variant from the breeding population.
dc.description.confidentialfalse
dc.edition.editionSeptember/October 2022
dc.format.pagination1800-1805
dc.identifier.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/35962713
dc.identifier.citationKopke MA, Shelton GD, Lyons LA, Wall MJ, Pemberton S, Gedye KR, Owen R, Guo LT, Buckley RM, Valencia JA, 99 Lives Consortium , Jones BR. (2022). X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat.. J Vet Intern Med. 36. 5. (pp. 1800-1805).
dc.identifier.doi10.1111/jvim.16509
dc.identifier.eissn1939-1676
dc.identifier.elements-typejournal-article
dc.identifier.issn0891-6640
dc.identifier.urihttps://mro.massey.ac.nz/handle/10179/70395
dc.languageeng
dc.publisherWiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine
dc.publisher.urihttps://onlinelibrary.wiley.com/doi/10.1111/jvim.16509
dc.relation.isPartOfJ Vet Intern Med
dc.rights(c) 2022 The Author/s
dc.rightsCC BY-NC 4.0
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/
dc.subjectCNM
dc.subjectXLMTM
dc.subjectcongenital
dc.subjectfeline
dc.subjectimmunohistochemistry
dc.subjectskeletal muscle
dc.subjectAnimals
dc.subjectCat Diseases
dc.subjectCats
dc.subjectElectron Transport Complex IV
dc.subjectMale
dc.subjectMuscle, Skeletal
dc.subjectMyopathies, Structural, Congenital
dc.subjectProtein Tyrosine Phosphatases, Non-Receptor
dc.subjectSuccinate Dehydrogenase
dc.titleX-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat
dc.typeJournal article
pubs.elements-id455479
pubs.organisational-groupOther
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