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Article

KCNG1-Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf.

Genes - 12 Nov 2021

Jacinto Joana G P, Häfliger Irene M, Akyürek Eylem Emek, Sacchetto Roberta, Benazzi Cinzia, Gentile Arcangelo, Drögemüller Cord

Abstract excerpt

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...

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Identifiers

PMID: 34828398
DOI: 10.3390/genes12111792
PMCID: PMC8618021

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