| Autor: |
Peterson, Erin, Rudolph, Tori E., Starr‐Moss, Alison, Anderson, Kendall, Lennon, Vanda A., Shelton, G. Diane, Clark, Leigh Anne |
| Předmět: |
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| Zdroj: |
Animal Genetics; Aug2024, Vol. 55 Issue 4, p702-704, 3p |
| Abstrakt: |
This article discusses the discovery of independent CHRNE mutations in English Springer Spaniels (ESSs) and a Smooth Fox Terrier (SFT) with congenital myasthenic syndrome (CMS), which are inherited disorders affecting neuromuscular transmission. The affected dogs exhibited muscle weakness and fatigue, and skeletal muscle biopsies revealed a deficiency of acetylcholine receptors (AChRs). Through genetic sequencing, unique point mutations were identified in the CHRNE gene in both breeds. The study also highlights other gene mutations associated with CMS in different dog breeds. The authors conclude that these findings contribute to a better understanding of CMS in dogs. [Extracted from the article] |
| Databáze: |
Complementary Index |
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