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Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
Phospholipase A2 group VI (PLA2G6) on Chromosome 10
Variant Detected:
Base Substitution c.1579G>A p.A526T
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):
Tsuboi M, et al. Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. (2017) Plos One 12(1); e0169002.
Associated Breed(s):
Mixed Breed, Papillon,