Congenital Myasthenic Syndrome (Golden Retriever Type)

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

COLQ

Variant Detected:

missense c.880G>A/p.(G294R) chr23

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/31769119/

Associated Breed(s):

Goldador, Golden Retriever, Goldendoodle, Groodle,