Skip to main content

Address

Panerių g. 246
48454 Kaunas
Lithuania

Opening hours

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

X-linked Myotubular Myopathy (XLMTM) – Maine Coon

Code: K478

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

X-Linked Myotubular Myopathy (XLMTM) is a severe neuromuscular disorder that that causes muscle weakness, difficulty eating and walking.

General information

X-Linked Myotubular Myopathy (XLMTM) is a severe neuromuscular disorder that that causes muscle weakness, difficulty eating and walking. It is caused by an X-linked recessive mutation to the gene MTM1. This specific variant of the disorder has been observed in the Maine Coon.

Specifications

Breeds

Maine Coon
Gene

MTM1
Chromosome

X
Mutation

c.455C>T
Organ

Muscles
Specimen

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

X-Linked Recessive
Also known as

XLMTM

Clinical features

Affected cats begin displaying signs of myotubular myopathy between approximately 4 and 7 months of age. Symptoms include difficulty walking, difficulty eating, decreased muscle mass, an inability to fully open the jaw, and general muscle weakness. The disease is progressive, and euthanasia may be necessary due to poor quality of life.

References

Pubmed ID: 35962713

Year published: 2022

Omia ID: 1508

Omia variant ID:

Turnaround information

  • 15 working days