Comment on “CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions”

With interest, we read the article by Montano et al. about a 42-year-old Italian female with ptosis, ophthalmoparesis, dysphagia, exercise intolerance, and myalgias [1]. The phenotype was attributed to the compound heterozygous mutations c.462T>A and c.707？+？2T>G in the DGUOK gene secondarily causing multiple mtDNA deletions [1]. We have the following comments and concerns