SGCA | definition of SGCA by Medical dictionary
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SGCA A gene on chromosome 17q21 that encodes a component of the dystrophin-glycoprotein complex, which is thought to be restricted to striated muscle. It stabilises muscle cell membranes and links the actin cytoskeleton to the extracellular matrix.
SGCA mutations result in type 2D autosomal recessive limb-girdle muscular dystrophy.
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References in periodicals archive
Characteristics of the Patients with Tuberous Sclerosis Number of patients (n) 36 Age (year) (median, range) 6 (0-17) Sex (M/F) 18/18 Presentation findings (n) Epilepsy 28 (78%) (5 infantile spasm) Prenatal 4 Age (year) at the time of 6 years (2 days-17 years) diagnosis (median, range) Familial history 11 (%31) Skin findings (n) Hypomelanocytic macules 30 "Shagreen" patch 10 Facial angiofibroma 19 Brain findings (n) 31 (23 patients MMR) Subependymal nodules 27 Cortical tuber 16 SGCA
7 Heart involvement (n) 11 Renal involvement (n) 28 MMR: mental motor retardation; SGCA
: subependymal giant cell astrocytoma Table 3.
Expression of genes (CAPN3, SGCA
, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.