OMIA:001619-9685 : Muscular dystrophy, congenital merosin-deficient in Felis catus (domestic cat)

Categories: Muscle phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 607855 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: no

Molecular basis: O'Brien et al. (2001) reported a deficiency of laminin alpha 2 (also called merosin) in affected cats. Presumably this is due to lack of expression of the LAMA2 gene.

Breeds: Devon Rex (Cat) (VBO_0100084), Maine Coon (Cat) (VBO_0100154), Sphynx (Cat) (VBO_0100230).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:001619-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2008 Awamura, Y., Uchida, K., Arikawa-Hirasawa, E. :
Long-term follow-up of laminin alpha2 (merosin)-deficient muscular dystrophy in a cat. J Feline Med Surg 10:274-9, 2008. Pubmed reference: 18243745 . DOI: 10.1016/j.jfms.2007.11.003.
2003 Poncelet, L., R├ęsibois, A., Engvall, E., Shelton, G.D. :
Laminin alpha2 deficiency-associated muscular dystrophy in a Maine coon cat. J Small Anim Pract 44:550-2, 2003. Pubmed reference: 14692554 .
2002 Shelton, G.D., Engvall, E. :
Muscular dystrophies and other inherited myopathies. Vet Clin North Am Small Anim Pract 32:103-24, 2002. Pubmed reference: 11785725 .
2001 O'Brien, D.P., Johnson, G.C., Liu, L.A., Guo, L.T., Engvall, E., Powell, H.C., Shelton, G.D. :
Laminin alpha 2 (merosin)-deficient muscular dystrophy and demyelinating neuropathy in two cats. J Neurol Sci 189:37-43, 2001. Pubmed reference: 11535231 .

Edit History


  • Created by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 07 Oct 2011