Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

ARHGEF10

Variant Detected:

c.1955_1958+6del CACGGTGAGC

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

Recommended Screening:

Muscle biopsy

Research Citation(s):

PLoS Genet. 2014 Oct 2;10(10):e1004635

Associated Breed(s):

Leonberger, Saint Bernard ,