Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis

Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance. We describe a patient with myotonic dystrophy who developed biopsy-proven non-a...

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Autores principales: Bhardwaj, Rishi R., Duchini, Andrea
Formato: Texto
Lenguaje:English
Publicado: S. Karger AG 2010
Materias:
Published: March 2010
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2988905/
https://www.ncbi.nlm.nih.gov/pubmed/21103235
http://dx.doi.org/10.1159/000292093
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author Bhardwaj, Rishi R.
Duchini, Andrea
author_facet Bhardwaj, Rishi R.
Duchini, Andrea
author_sort Bhardwaj, Rishi R.
collection PubMed
description Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance. We describe a patient with myotonic dystrophy who developed biopsy-proven non-alcoholic steatohepatitis. We suggest that patients with myotonic dystrophy are at risk of developing steatohepatitis. The relationship between defective insulin receptor and development of steatohepatitis should be further investigated.
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spelling pubmed-29889052010-11-22 Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis Bhardwaj, Rishi R. Duchini, Andrea Case Rep Gastroenterol Published: March 2010 Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance. We describe a patient with myotonic dystrophy who developed biopsy-proven non-alcoholic steatohepatitis. We suggest that patients with myotonic dystrophy are at risk of developing steatohepatitis. The relationship between defective insulin receptor and development of steatohepatitis should be further investigated. S. Karger AG 2010-03-17 /pmc/articles/PMC2988905/ /pubmed/21103235 http://dx.doi.org/10.1159/000292093 Text en Copyright © 2010 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No-Derivative-Works License (http://creativecommons.org/licenses/by-nc-nd/3.0/). Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.
spellingShingle Published: March 2010
Bhardwaj, Rishi R.
Duchini, Andrea
Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis
title Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis
title_full Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis
title_fullStr Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis
title_full_unstemmed Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis
title_short Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis
title_sort non-alcoholic steatohepatitis in myotonic dystrophy: dmpk gene mutation, insulin resistance and development of steatohepatitis
topic Published: March 2010
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2988905/
https://www.ncbi.nlm.nih.gov/pubmed/21103235
http://dx.doi.org/10.1159/000292093
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