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Affected Gene: ARHGEF10
Transmission: Autosomal recessive
Mutation: CanFam3.1 16 g.54349199_54349208del c.1955_1958+6del (del CACGGTGAGC)
OMIA Link: 001917-9615
Breeds Recommended for Testing:  Leonberger, Saint Bernard

Symptoms:
Polyneuropathy is characterized by damage to peripheral nerves, leading to loss of muscle tone, muscle atrophy, and general weakness around the age of 2 years. Respiratory problems and abnormal barking due to laryngeal paralysis are also observed.

References:
Ekenstedt KJ, Becker D, Minor KM, Shelton GD, Patterson EE, Bley T, Oevermann A, Bilzer T, Leeb T, Drögemüller C, Mickelson JR.
An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs.
PLoS Genet. 2014 Oct 2;10(10):e1004635. PubMed: 25275565

Polyneuropathy 1 (LPN1, ARHGEF10) - Leonberger and Saint Bernard

C$65.00Price

5 tests et + 55$ch.

Quantity

After your samples are received at the laboratory, please allow 10 to 15 business days for your results to be sent.

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