Categories: 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)

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below