CTG Expansion in the DMPK Gene: Semen Quality Assessment and Outcome of Preimplantation Genetic Diagnosis

Abstract Context Myotonic dystrophy (DM) is an autosomal dominant disorder characterized mainly by myotonia but also by primary hypogonadism. No study has reported on fertility management of patients affected by DM type 1 (DM1). Objective This study investigates the impact of CTG repeats in the DMPK...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2020-04, Vol.105 (4), p.1137-1144
Hauptverfasser:	Puy, Vincent, Mayeur, Anne, Levy, Alexandre, Hesters, Laetitia, Raad, Jade, Monnot, Sophie, Steffann, Julie, Frydman, Nelly
Format:	Artikel
Sprache:	eng
Schlagworte:	Cryopreservation Diagnosis Disease transmission DMPK protein Fertility Genetic aspects Genetic screening Health aspects Hereditary diseases Hypogonadism Motility Myotonia Myotonic dystrophy Prevention Quality control Risk factors Semen Sperm Trinucleotide repeat diseases
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