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Metabolomics of Alix / and ccOzz / soleus muscles reveal mitochondrial insufficiencies The functional and biochemical mitochondrial defects observed in Alix / and ccOzz / myofibers may indicate an overall impaired mitochondrial metabolism
Elkattawy S, Ayad S, El-Feki I, Guo X, Appiah-Kubi E, Talpur A, Kessler W
Diagnostic algorithms based on phenotype guide genetic testing in DSMA, although the yield currently remains low [55]
