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

الملخص EN

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.