Furthermore, cells from the most severely affected 51-year-old CMT1A patient (P4) showed the most pronounced effect on proteostasis, with highly significant impairment of proteasome activity ( Figure 4 ).
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Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.
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