Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2

BACKGROUND: Myotonic dystrophy type 2 (DM2) is caused by a CCTG repeat expansion in intron 1 of the CCHC-Type Zinc Finger Nucleic Acid Binding Protein (CNBP) gene. Previous studies indicated that this repeat expansion originates from separate founders. OBJECTIVE: This study was set out to determine...

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Detalles Bibliográficos
Autores principales: Damen, Manon, Schijvenaars, Mascha, Schimmel-Naber, Marlies, Groothuismink, Johanne, Coenen, Marieke, Tieleman, Alide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9789478/
https://www.ncbi.nlm.nih.gov/pubmed/34024776
http://dx.doi.org/10.3233/JND-210671

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