Categories: Muscle phene

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.
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).