From Cushing syndrome to lipodystrophy: an ultrarare case of MFN2-associated lipomatosis

Pol Arch Intern Med. 2023 Jun 23;133(6):16495. doi: 10.20452/pamw.16495. Epub 2023 May 10.

Authors

Anna Braszak-Cymerman¹, Marta K Walczak², Anna Skorczyk-Werner³, Maciej R Krawczyński³, Wiesław Bryl²

Affiliations

¹ Department of Internal Diseases, Metabolic Disorders and Hypertension, Poznan University of Medical Sciences, Poznań, Poland. anna.braszak@gmail.com
² Department of Internal Diseases, Metabolic Disorders and Hypertension, Poznan University of Medical Sciences, Poznań, Poland
³ Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland

PMID: 37162328
DOI: 10.20452/pamw.16495

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Cushing Syndrome*
Female
GTP Phosphohydrolases
Humans
Lipodystrophy*
Lipomatosis* / complications
Lipomatosis* / diagnostic imaging
Lipomatosis, Multiple Symmetrical* / diagnosis
Lipomatosis, Multiple Symmetrical* / diagnostic imaging
Mitochondrial Proteins

Substances

GTP Phosphohydrolases
MFN2 protein, human
Mitochondrial Proteins