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Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin

García Puga, Mikel; Sáenz Antoñanzas, Ander; Fernández Torrón, Roberto; López de Munain Arregui, Adolfo José; Matheu Fernández, Ander (Impact Journals, 2020-04-15)

Myotonic dystrophy type 1 (DM1; MIM #160900) is an autosomal dominant disorder, clinically characterized by progressive muscular weakness and multisystem degeneration. The broad phenotypes observed in patients with DM1 ...

Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

Wang, Youjin; Best, Ana; Fernández Torrón, Roberto; Alsaggaf, Rotana; Garcia Puga, Mikel; Dagnall, Casey L.; Hicks, Belynda; Thompson, Mone’t; Matheu Fernández, Ander; Zulaica Ijurco, Miren; Greene, Mark H.; López de Munain Arregui, Adolfo José; Gadalla, Shahinaz M. (Wiley, 2019-12)

Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with ...