Phenotypic heterogeneity of MELAS

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Phenotypic heterogeneity of MELAS☆☆☆

With interest we read the article by Dvorakova et al. about 50 Czech patients carrying the m.3243ANG mutation [1]. It raises questions and concerns. Since MELAS is a progressive disease, we should be informed about the long-term follow-up findings in the 50 mutation carriers. How many of the 17 patients without clinical manifestations at inclusion developed MELAS during follow-up? How many of t...

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ژورنال

عنوان ژورنال: Molecular Genetics and Metabolism Reports

سال: 2017

ISSN: 2214-4269

DOI: 10.1016/j.ymgmr.2016.12.002