Neuromuscul. Disord. 2019 Nov 30
Spectral domain optical coherence tomography findings in myotonic dystrophy.
Abed E, D'Amico G, Rossi S, Perna A, Bianchi MLE, Silvestri G
The purpose of the study is to evaluate retinal involvement in a cohort of patients affected by Myotonic Dystrophy type 1 (DM1). Both eyes of 30 patie ...
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Source: PubMed
J. Clin. Endocrinol. Metab. 2020 Jan 30
CTG expansion in the DMPK gene: semen quality assessment and outcome of Preimplantation Genetic Diagnosis.
Puy V, Mayeur A, Levy A, Hesters L, Raad J, Monnot S, Steffann J, Frydman N
Myotonic dystrophy (DM) is an autosomal dominant disorder characterized mainly by myotonia but also by primary hypogonadism. No study has reported on ...
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Source: PubMed
Cell Chem Biol 2020 Jan 23
A Toxic RNA Catalyzes the Cellular Synthesis of Its Own Inhibitor, Shunting It to Endogenous Decay Pathways.
Benhamou RI, Angelbello AJ, Wang ET, Disney MD
Myotonic dystrophy type 2 (DM2) is a genetically defined disease caused by a toxic expanded repeat of r(CCUG) [r(CCUG)exp], harbored in intron 1 of CC ...
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Source: PubMed
Ther Innov Regul Sci 2020 Jan 22
Patient Input to Inform the Development of Central Nervous System Outcome Measures in Myotonic Dystrophy.
White M
Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are multisystem, genetic disorders caused by repeat expansions on chromosome 19 (D ...
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Source: PubMed
Acta Myol
Fatigue in myotonic dystrophy type 1: a seven-year prospective study.
Peric S, Bjelica B, Bozovic I, Pesovic J, Paunic T, Banovic M, Brkusanin M, Aleksic K, Basta I, Pavicevic DS, Stojanovic VR
Cross-sectional studies reported fatigue in 50-90% of patients with myotonic dystrophy type 1 (DM1). The aim of this research was to assess frequency ...
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Source: PubMed
