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HSPG2
- The HSPG2 gene provides instructions for making a protein called perlecan. This protein is found in the extracellular matrix, ...
- ... Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a ... muscle contraction is triggered continuously, leading to myotonia. HSPG2 This condition is inherited in an autosomal recessive ...