Charcot-Marie-Tooth Neuropathy (CMT, DP, SBF2-related) – Schnauzer
Kodas: H959
Short description
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.
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.
Specifications
| Breeds | |
|---|---|
| Gene | SBF2 |
| Chromosome | 21 |
| Mutation | c.2363+1G>T |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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).
References
Pubmed ID: 31772832
Year published: 2019
Omia ID: 2284
Omia variant ID:
Turnaround information
- 10 working days