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Neuromuscular Degeneration
Description: Severe and progressive neuromuscular degeneration
Symptoms : Slowly worsening exercise intolerance, gait abnormalities, muscle atrophy of the pelvic limbs, noisy breathing, bark change, difficulty breathing
Age of onset : Before 4 years old
Frequency : 2% carriers
Gene involved : ARHGEF10
Tested mutation : c.1955_1958+6delCACGGTGAGC
Transmission : Autosomal Recessive
Patent : -
Notes : An another DNA test (LPN2) is available to detect an other form of polyneuropathy in this breed.
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