Associated Papers
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant.
Sorkina E et al.
Clinical Diabetes and Endocrinology, 2020
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Hayashi YK et al.
The Journal of Clinical Investigation, 2009
Select a paper to view details