Molecular genetics of congenital myotonic dystrophy

Molecular genetics of congenital myotonic dystrophy

Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease showing strong genetic anticipation, and is caused by the expansion of a CTG repeat tract in the 3′-UTR of the DMPK gene. Congenital Myotonic Dystrophy (CDM1) represents the most severe form of the disease, with prenatal onset, symptoms dist...

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Bibliographic Details
Main Authors: Stella Lanni, Christopher E. Pearson
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Neurobiology of Disease
Subjects:
Myotonic Dystrophy type 1
Congenital Myotonic Dystrophy
Repeat instability
Parent-of-origin effect
DNA methylation
Epigenetics
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996119302013

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http://www.sciencedirect.com/science/article/pii/S0969996119302013

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