Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments

Cruz, Simão; Taipa, Ricardo; Nogueira, Célia; Melo-Pires, Manuel; Vilarinho, Laura

http://hdl.handle.net/10400.18/4827

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Authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments for the study “Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders” This study confirms the high relative frequency of single large-scale deletions among mitochondrial disorders as well as its particular association with CPEO. Muscle histology seems to be particularly useful in older patients and those with mtDNA deletions, whereas RCEA might be more helpful in young children or individuals with mtDNA depletion. (Full article reference: Cruz S, Taipa R, Nogueira C, Pereira C, Almeida LS, Neiva R, Geraldes T, Guimarães A, Melo-Pires M, Vilarinho L. Clinical, biochemical, molecular and histological features of 65 Portuguese patients with mitochondrial disorders. Muscle Nerve. 2017 Nov;56(5):868-872. doi: 10.1002/mus.25593. Epub 2017 Apr 4).