Centronuclear Myopathy

Our DNA test for Centronuclear Myopathy is ideal for breeders and owners who want the reassurance of genetic health testing.

The guideline turnaround time for single tests is approximately 10-12 working days after the swab arrives at the lab.

If you need more than two tests it is often more cost-effective to order the relevant breed package.

Description

Centronuclear Myopathy (CNM) is a reduction in muscle fibres causing muscle weakness, abnormal posture and gait, and exercise intolerance and collapse. Symptoms are variable but dogs are generally weak by five months of age and progression of the disorder ends around one year.

Centronuclear Myopathy is an autosomal recessive condition caused by a mutation in the HACD1 gene.

Breeds

This test is also included in the following breed packages:

• Australian Labradoodle
• Cockerdor
• Labradoodle
• Labrador Essential

Scientific references:

Maurer M, Mary J, Guillaud L, Fender M, Pelé M, Bilzer T, Olby N, Penderis J, Shelton GD, Panthier JJ, Thibaud JL, Barthélémy I, Aubin-Houzelstein G, Blot S, Hitte C, Tiret L. Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One. 2012;7(10):e46408

Tiret L, Blot S, Kessler JL, Gaillot H, Breen M, Panthier JJ. The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. Hum Genet. 2003 Sep;113(4):297-306