Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/5459
Título: Reply Cruz et al 2017 Muscle & Nerve
Autor: Cruz, Simão
Taipa, Ricardo
Nogueira, Célia
Melo-Pires, Manuel
Vilarinho, Laura
Palavras-chave: Mitochondrial Disorders
Doenças Genéticas
Data: Nov-2017
Editora: Wiley
Citação: Muscle Nerve. 2017 Nov;56(5):E49. doi: 10.1002/mus.25650. Epub 2017 Apr 12.
Resumo: 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.(...)
Peer review: yes
URI: http://hdl.handle.net/10400.18/5459
DOI: 10.1002/mus.25650
ISSN: 0148-639X
Versão do Editor: https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.25650
Aparece nas colecções:DGH - Artigos em revistas internacionais

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