cattle
channelopathy
craniofacial dysmorphism
hydrosyringomyelia
neuromuscular disorder
paradoxical myotonia congenita
potassium voltage-gated channel
precision medicine
skeletal muscle
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
12 11 2021
12 11 2021
Historique:
received:
18
10
2021
revised:
29
10
2021
accepted:
10
11
2021
entrez:
27
11
2021
pubmed:
28
11
2021
medline:
10
2
2022
Statut:
epublish
Résumé
Inherited channelopathies are a clinically and heritably heterogeneous group of disorders that result from ion channel dysfunction. The aim of this study was to characterize the clinicopathologic features of a Belgian Blue x Holstein crossbred calf with paradoxical myotonia congenita, craniofacial dysmorphism, and myelodysplasia, and to identify the most likely genetic etiology. The calf displayed episodes of exercise-induced generalized myotonic muscle stiffness accompanied by increase in serum potassium. It also showed slight flattening of the splanchnocranium with deviation to the right side. On gross pathology, myelodysplasia (hydrosyringomielia and segmental hypoplasia) in the lumbosacral intumescence region was noticed. Histopathology of the muscle profile revealed loss of the main shape in 5.3% of muscle fibers. Whole-genome sequencing revealed a heterozygous missense variant in
Identifiants
pubmed: 34828398
pii: genes12111792
doi: 10.3390/genes12111792
pmc: PMC8618021
pii:
doi:
Substances chimiques
Potassium Channels, Voltage-Gated
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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