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

ABSTRACT:

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 str

SUBMITTER: Kopke MA 

PROVIDER: S-EPMC9511081 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature