- Jul 2022
mutations in the α-sarcoglycan gene (SGCA)
Case: 8 year old boy, Chinese.
FamilyInfo: Family members denied relevant family history
CasePresentingHPOs: HP:0006785, HP:0003551, HP:0003391, HP:0003560
MotorAchievement: Noticed around 7 years old that he had trouble climbing stairs and standing up when crouching and had slower activity than other peers.
CreatineKinase: Creatine kinase CK 15550U/L, MB fraction 276 U/L
CasePreviousTesting:430 genes associated with muscular dystrophy were captured with a liquid catch kit.
Variant: NM_000023c.218 C>T
ClinVarID: Unregistered varient
CAID: Unregistered varient
"0.000 Allele Frequency - East Asian