Nemaline myopathy diagnosed in two young Border collies in formalin‐fixed paraffin‐embedded muscle samples using conventional stains
| Autor: | Monika Hilbe, Katrin Beckmann, Martina Dettwiler, Titus Sydler, Stefanie Klausmann |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty General Veterinary business.industry Skeletal muscle Muscle weakness Histology Gömöri trichrome stain Haematoxylin Muscle disorder medicine.disease Congenital neuromuscular disorder 03 medical and health sciences chemistry.chemical_compound 030104 developmental biology 0302 clinical medicine Nemaline myopathy medicine.anatomical_structure chemistry medicine medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Veterinary Record Case Reports. 6 |
| ISSN: | 2052-6121 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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