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Charcot-Marie-Tooth (CMT) type 4B2 is part of a a broad category of neuromuscular diseases called Demyelinating polyneuropathy (DP) and causes muscle weakness and loss of sensation.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 21 |
| Mutation | c.2363+1G>T |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
General information
Charcot-Marie-Tooth (CMT) type 4B2 is part of a a broad category of neuromuscular diseases called Demyelinating polyneuropathy (DP) and causes muscle weakness and loss of sensation. CMT is caused by a recessive mutation to the SET binding factor 2 gene (SBF2, also known as MTMR13 gene). It has been observed in the Miniature Schnauzer.
Clinical features
Affected dogs present within the first few years of life with symptoms such as exercise intolerance, difficulty breathing, a hoarse voice, vomiting and aspiration pneumonia (lung infections caused by inhaling food or liquid).
Additional information
References
Pubmed ID: 31772832
Year published: 2019
Omia ID: 2284
Omia variant ID: