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Polyneuropathy - NDRG1 Type (AMPN)
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
GTPs
General
Disease Name
Polyneuropathy - NDRG1 Type (AMPN)
OMIA
2120
Gene Name
NDRG1
Mutation
c.1080_1089delTCGCCTGGAC
Mutation 2
c.293G>T
Mutation 3
Gly98Val
Test Type
Genetic Disease/Disorder
Details
Polyneuropathy describes many abnormalities of the nervous system including sensory nerves, motor nerves, and autonomic nerves. Signs include progressive weakness, exercise intolerance, high-steppage, change in bark pitch and difficulty breathing. Age of onset 7 to 20 months of age. Symptoms can be progressive.
Published
Drogemuller, C., Becker, D., Kessler, B., Kemter, E., Tetens, J., Jurina, K., Jaderlund, KH., Flagstad, A., Perloski, M., Lindblad-Toh, K., Matiasek, K. : A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy. PLoS One 5:e11258, 2010. Pubmed reference: 20582309. DOI: 10.1371/journal.pone.0011258.
Published 2
Bruun, C.S., Juderlund, K.H., Berendt, M., Jensen, K.B., Spodsberg, E.H., Gredal, H., Shelton, G.D., Mickelson, J.R., Minor, K.M., Lohi, H., Bjerkas, I., Stigen, O., Espenes, A., Rohdin, C., Edlund, R., Ohlsson, J., Cizinauskas, S., Leifsson, P.S., Drogemuller, C., Moe, L., Cirera, S., Fredholm, M. : A Gly98Val Mutation in the N-Myc Downstream Regulated Gene 1 (NDRG1) in Alaskan Malamutes with Polyneuropathy. PLoS One 8:e54547, 2013. Pubmed reference: 23393557. DOI: 10.1371/journal.pone.0054547.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
