JLPP - Juvenile Laryngeal Paralysis and Polyneuropathy/Rottweiler

Race liée: 

Polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV)

Description: 
Defects of neuronal message transmission
Symptomes: 
Laryngeal paralysis, difficulty breathing, difficulty swallowing, weakness and loss of coordination in the hind limbs, cataracts, microphtalmia
Age d'aparition: 
From the age of 3 months
Fréquence: 
18% carriers
Gène impliqué: 
RAB3GAP1
Mutation testée: 
c.743delC
Transmission: 
Autosomal Recessive
Brevet: 
-