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

Matthew A. Kopke; G. Diane Shelton; Leslie A. Lyons; Meredith J. Wall; Sarah Pemberton; Kristene R. Gedye; Rebecca Owen; Ling T. Guo; Reuben M. Buckley; Juan A. Valencia; 99 Lives Consortium; Boyd R. Jones; Robert Harvey

doi:10.1111/jvim.16509

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

Journal article

Open access

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

Matthew A. Kopke, G. Diane Shelton, Leslie A. Lyons, Meredith J. Wall, Sarah Pemberton, Kristene R. Gedye, Rebecca Owen, Ling T. Guo, Reuben M. Buckley, Juan A. Valencia, …

Journal of Veterinary Internal Medicine, Vol.36(5), pp.1800-1805

2022

DOI: https://doi.org/10.1111/jvim.16509

PMID: 35962713

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Abstract

CNM

congenital

feline

immunohistochemistry

skeletal muscle

XLMTM

Objective: 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.

Details

Title: X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat
Authors: Matthew A. Kopke (Corresponding Author) - Massey University
G. Diane Shelton (Author) - University of California, San Diego
Leslie A. Lyons (Author) - University of Missouri
Meredith J. Wall (Author) - Massey University
Sarah Pemberton (Author) - Massey University
Kristene R. Gedye (Author) - Massey University
Rebecca Owen (Author) - Massey University
Ling T. Guo (Author) - University of California, San Diego
Reuben M. Buckley (Author) - University of Missouri
Juan A. Valencia (Author) - Missouri College
99 Lives Consortium (Research Group)
Boyd R. Jones (Author) - Massey University
Robert Harvey (Consortium Member) - University of the Sunshine Coast, Queensland, School of Health
Publication details: Journal of Veterinary Internal Medicine, Vol.36(5), pp.1800-1805
Publisher: Wiley-Blackwell Publishing, Inc.
Date published: 2022
DOI: 10.1111/jvim.16509
ISSN: 1939-1676; 0891-6640
PMID: 35962713
Copyright note: © 2022 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
Grant note: National Institute of General Medical Sciences. Grant Number: T34GM136493. Mars Veterinary. Winn Feline Foundation and George and Phyllis Miller Trust. Grant Numbers: MT19-001, MTW18-009, MT18-009. MU Gilbreath McLorn Endowment.
Organisation Unit: School of Health
Language: English
Record Identifier: 99982892702621
Output Type: Journal article

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