Nemaline myopathy diagnosed in two young Border collies in formalin-fixed paraffin-embedded muscle samples using conventional stains

Dettwiler, Martina Andrea; Sydler, Titus; Klausmann, Stefanie; Beckmann, Katrin; Hilbe, Monika (2018). Nemaline myopathy diagnosed in two young Border collies in formalin-fixed paraffin-embedded muscle samples using conventional stains. Veterinary Record Case Reports, 6(4), e000711. British Veterinary Association 10.1136/vetreccr-2018-000711

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Nemaline myopathy (NM) is a congenital neuromuscular disorder with heterogeneous clinical signs such as muscle weakness, affecting humans, seldom dogs and cats. For human NM, several causative gene mutations have been identified. The hallmark of this disease is the presence of sarcoplasmic inclusions (nemaline rods) in skeletal muscle fibres, which can be visualised in sections of muscle specimens. Ultrastructurally, an enlargement and streaming of the Z lines can be detected. Here, the case of two 10-week-old female Border collie littermates with progressive gait dysfunction, muscle stiffness and exercise intolerance, which were euthanased because of poor prognosis, is described. Histology of formalin-fixed paraffin-embedded muscle samples revealed sarcoplasmic rods visible in tissue sections stained with haematoxylin and eosin, the Gomori trichrome and the phosphotungstic acid haematoxylin stain. In electron microscopy, the rods were confirmed as streaming of the Z lines. Therefore, a congenital NM was diagnosed.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP)

UniBE Contributor:

Dettwiler, Martina Andrea

Subjects:

500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture

ISSN:

2052-6121

Publisher:

British Veterinary Association

Language:

English

Submitter:

Achim Braun Parham

Date Deposited:

04 Jun 2019 12:19

Last Modified:

09 Jun 2019 02:36

Publisher DOI:

10.1136/vetreccr-2018-000711

BORIS DOI:

10.7892/boris.127559

URI:

https://boris.unibe.ch/id/eprint/127559

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