In 1993, it was discovered that Wilsons disease was caused by a mutation in the ATP7B gene, on chromosome 13, which resulted in absent or reduced function of a copperchaperone protein, ATP7B.14 ATP7B is a metal-transporting P-type ATPase, located on the trans-Golgi complex of the hepatocyte.15 The ATP7B protein is necessary for transport of copper into vesicles that form lysosomes for excretion into the bile
Although some studies have demonstrated benefits such as increased lean body mass and improved body composition (in populations with clinical need for the drugs), these gains have not consistently translated into enhancements in muscle strength, physical performance, or overall quality of life
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