OMIA 001619-9685 : Muscular dystrophy, congenital merosin-deficient in Felis catus

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

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, Maine Coon, Sphynx.

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