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Article

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.

JCI insight - 21 Mar 2019

Kim Ellis Y, Barefield David Y, Vo Andy H, Gacita Anthony M, Schuster Emma J, Wyatt Eugene J, Davis Janel L, Dong Biqin, Sun Cheng, Page Patrick, Dellefave-Castillo Lisa, Demonbreun Alexis, Zhang Hao F, McNally Elizabeth M

Abstract excerpt

Myotonic dystrophy (DM) is the most common autosomal dominant muscular dystrophy and encompasses both skeletal muscle and cardiac complications. DM is nucleotide repeat expansion disorder in which type 1 (DM1) is due to a trinucleotide repeat expansion on chromosome 19 and type 2 (DM2) arises from a tetranucleotide repeat expansion on chromosome 3. Developing representative models of DM in animals has been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30730308
DOI: 10.1172/jci.insight.122686
PMCID: PMC6482996

Genes

MBNL1

Provenance

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