Reply Cruz et al 2017 Muscle & Nerve

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

http://hdl.handle.net/10400.18/5459

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We appreciate the interest shown by Drs Finsterer and Zarrouk-Mahjoub in our study.1 Although we agree with the comments made on the mode of transmission of several mtDNA-associated disorders, the analysis of the families and the patterns of inheritance were beyond the scope of our study. As we stated in the Discussion, we do admit the possibility of a selection bias towards mitochondrial disorders with skeletal muscle involvement. However, we did not base our inclusion criteria on the existence of suggestive histological features. Instead, we selected all the patients with a molecularly confirmed diagnosis who also had a muscle biopsy performed and analyzed at the neuropathology unit that participated in this study, regardless of the results of the histology. Moreover, as per the supplementary tables, this study included several patients with predominant central nervous system or multisystem features who probably had a muscle biopsy only because it was more straightforward than obtaining other tissue for analysis.(...)