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Centronuclear Myopathy

Centronuclear Myopathy

Turnaround: approx. 2 weeks

£48.00 - £48.00
£48.00
£48.00
£48.00 - £48.00
£48.00

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.

Description

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