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.
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
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., Résibois, 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 .|
- Created by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 07 Oct 2011