OMIA 001620-9685 : Muscular dystrophy, limb-girdle, type R4 (LGMDR4) in Felis catus
Category: Muscle phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: Also known as Sarcoglycan deficiency. Previously known as Muscular dystrophy, limb-girdle, type 2E (LGMD2E): "At the 229th ENMC international workshop, Straub et al. (2018) reviewed, reclassified, and/or renamed forms of LGMD. The proposed naming formula was 'LGMD, inheritance (R or D), order of discovery (number), affected protein.' Under this formula, LGMD2E was renamed LGMDR4." (OMIM 604286)
Pathology: Salvadori et al. (2009) reported "A partial β-sarcoglycan (SG) deficiency with retention of other components of the SG complex (SGC) . . . in [a] 6-month-old, intact male domestic shorthaired kitten that was referred for evaluation of weakness, reluctance to move and dyspnoea".
Breed: Domestic Shorthair.
|2009||Salvadori, C., Vattemi, G., Lombardo, R., Marini, M., Cantile, C., Shelton, G.D. :|
|Muscular dystrophy with reduced beta-sarcoglycan in a cat. J Comp Pathol 140:278-82, 2009. Pubmed reference: 19203767. DOI: 10.1016/j.jcpa.2008.12.003.|
- Created by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Jan 2021