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Journal of the South African Veterinary Association

versão On-line ISSN 2224-9435
versão impressa ISSN 1019-9128

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BESTER, EG et al. Nemaline myopathy in a six-month-old Pomeranian dog. J. S. Afr. Vet. Assoc. [online]. 2022, vol.93, n.1, pp.10-16. ISSN 2224-9435.  http://dx.doi.org/10.36303/jsava.2022.93.1.498.

Nemaline myopathy - a clinically and genetically complex heterogenous group of disorders - is described uncommonly in humans and rarely in animals, and is characterised by progressive muscle weakness. The diagnosis is confirmed by histological and/or ultrastructural identification of subsarcolemmal, thread-like, rod-shaped structures called nemaline rod bodies within more than 40% of skeletal muscle fibres. These rods contain the Z-line protein, α-actinin, that can be effectively stained in skeletal muscles using Gomori or Masson trichrome and negatively stained with periodic acid-Schiff. Similar rod-like bodies have been found in smaller numbers in dogs with endocrine disorders and occasionally in other conditions in humans. This report is of a six-month-old Pomeranian dog which had progressive exercise intolerance over a two-month period associated with severe disuse muscle atrophy of the thoracic limbs, as well as gradual pelvic limb weakness and regurgitation of food. Baseline diagnostics ruled out endocrinopathies and after histological and ultrastructural evaluation of thoracic limb muscles and nerve biopsies confirmed nemaline myopathy. The clinical course, diagnostic test results, ultrastructure of skeletal muscle and peripheral nerve, gross necropsy findings and histopathology using various stains are described and illustrated.

Palavras-chave : canine; congenital; Gomori trichrome; histopathology; Masson trichrome; nemaline myopathy; ultrastructure.

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