Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis

@inproceedings{Sahinoz2018PotentialAO,
  title={Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis},
  author={Melis Sahinoz and Shafaq Khairi and Ashley J. Cuttitta and Graham F. Brady and Amit R Rupani and Rasimcan Meral and Marwan K. Tayeh and Peedikayil E. Thomas and Meredith P Riebschleger and Sandra Ines Camelo-Piragua and Jeffrey W. Innis and M. Bishr Omary and Daniel Eugene Michele and Elif A Oral},
  booktitle={Clinical diabetes and endocrinology},
  year={2018}
}
BackgroundJuvenile dermatomyositis (JDM) is an auto-immune muscle disease which presents with skin manifestations and muscle weakness. At least 10% of the patients with JDM present with acquired lipodystrophy. Laminopathies are caused by mutations in the lamin genes and cover a wide spectrum of diseases including muscular dystrophies and lipodystrophy. The p.T10I LMNA variant is associated with a phenotype of generalized lipodystrophy that has also been called atypical progeroid syndrome.Case… CONTINUE READING
BETA
4
Twitter Mentions

Similar Papers

References

Publications referenced by this paper.
SHOWING 1-10 OF 17 REFERENCES

Atypical progeroid syndrome due to heterozygous missense LMNA mutations.

  • The Journal of clinical endocrinology and metabolism
  • 2009
VIEW 11 EXCERPTS
HIGHLY INFLUENTIAL

Hepatocyte-Specific Deletion of Mouse Lamin A/C Leads to Male-Selective Steatohepatitis

  • Cellular and molecular gastroenterology and hepatology
  • 2017
VIEW 1 EXCERPT