Literature DB >> 16487709

Congenital myopathy with abundant nemaline rods in a cat.

Stephanie A Kube1, Karen M Vernau, Richard A LeCouteur, Andrew P Mizisin, G Diane Shelton.   

Abstract

Nemaline myopathy is associated with rod-shaped structures in muscle fibers. At least seven distinct clinical forms have been described in humans and mutations have been identified in five different thin-filament genes. Only a few cases of spontaneously occurring nemaline myopathy have been reported in animals and include an adult-onset form in a family of cats and an early-onset form in a dog. Here, we describe a 2-year-old male, neutered, domestic shorthaired cat that was referred to the Veterinary Medical Teaching Hospital, University of California-Davis, for evaluation of chronic, progressive weakness, and fine tremors. Neurologic deficits were restricted to the neuromuscular system. Electromyography showed mild to moderate diffuse spontaneous activity. Although rod bodies were prominent on light and electron microscopic evaluation of biopsies from several muscles, sarcoplasmic accumulations of dystrophin, desmin, and spectrin also were identified by immunohistochemistry. These findings may represent the occurrence of rod bodies in conjunction with a protein-aggregate myopathy.

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Year:  2006        PMID: 16487709     DOI: 10.1016/j.nmd.2005.12.005

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  2 in total

1.  TNNT1 nemaline myopathy: natural history and therapeutic frontier.

Authors:  Michael D Fox; Vincent J Carson; Han-Zhong Feng; Michael W Lawlor; John T Gray; Karlla W Brigatti; J-P Jin; Kevin A Strauss
Journal:  Hum Mol Genet       Date:  2018-09-15       Impact factor: 6.150

2.  Myopathy with oval inclusions in a domestic shorthair cat.

Authors:  Eliot Gougeon; Thibaut Larcher; Mireille Ledevin; Yvonne McGrotty; Pierre Méheust
Journal:  JFMS Open Rep       Date:  2022-03-25
  2 in total

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