Skip to main content

Address

Panerių g. 246
48454 Kaunas
Lithuania

Opening hours

  • Mon – Fri
    9 :00 – 17 00
  • Sat
    Closed    
  • Sun
    Closed   
Dog DNA testing illustration

Myotonia Congenita – Schnauzer

Code: H738

74,72 €

Sample details

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

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
The add to cart button will appear once you select the values above

Short description

In dogs affected with Myotonia Congenital (MC) part of the skeletal muscle chloride channels are unable to fully open.

General information

In dogs affected with Myotonia Congenital (MC) part of the skeletal muscle chloride channels are unable to fully open. The result is a delay in skeletal muscle relaxation, frequent contraction and muscle hypertrophy.

Specifications

Breeds

Schnauzer (Miniature), Schnauzer stándard
Gene

CLCN1
Chromosome

16
Mutation

c.803C>T
Organ

Muscles
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

Dogs suffering from Myotonia Congenital show a stiff gait especially at the onset of movement and during rapid changes in posture (turning quickly, falling). The symptoms may diminish with exercise. Other symptoms are severe skeletal muscle hypertrophy, difficulty rising, increased respiratory sounds, difficulty swallowing, and hypersalivation. The symptoms start at a young age.

References

Pubmed ID: 10452529

Year published: 1999

Omia ID: 698

Omia variant ID:

Turnaround information

  • 15 working days