Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2010 Mar 17;4(1):100-103.
doi: 10.1159/000292093.

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

Rishi R Bhardwaj  1 , Andrea Duchini
Affiliations
Case Reports

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

Rishi R Bhardwaj et al. Case Rep Gastroenterol. .

Abstract

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.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Core needle biopsy of the liver. Findings include a moderate degree of macrovesicular steatosis with foci of hepatocellular inflammation. Trichrome stain demonstrates increased sinusoidal and pericentral fibrosis with occasional septal fibrosis.
See this image and copyright information in PMC

References

    1. Brook JD, McCurrach ME, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3? end of a transcript encoding a protein kinase family member. Cell. 1992;69:385. - PubMed
    1. Liquori CL, Ricker K, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001;293:864–867. - PubMed
    1. Harper PS. Myotonic Dystrophy. ed 2. WB Saunders; 1989.
    1. Harper PS, Reardon W. Heart disease in myotonic dystrophy. Lancet. 1992;339:939. - PubMed
    1. Savkur RS, Philips AV, et al. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet. 2001;29:40–47. - PubMed

Publication types