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Finally, only few studies have used muscle function/physical performance in the diagnostic workup

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Prognostic value of serum gamma-glutamyl transferase activity after myocardial infarction

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59 Two unique ATP7A missense mutations (p.P1386S and p.T994I) were identified in males with dHMN, especially p.P1386S, which resulted in a defect in ATP7A trafficking although ATP7A mRNA and protein levels remained normal