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Dog DNA testing illustration

Charcot-Marie-Tooth Neuropathy (CMT, DP, SBF2-related) – Schnauzer

Code: H959

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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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

Schnauzer (Miniature)
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

  • 15 working days