- En
- Fr
- De
- It
- Es
Language :
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:
-