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
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.
Akinci G et al.
Neuromuscular Disorders : Nmd, 2017
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
Akinci B et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
Akinci G et al.
European Journal of Medical Genetics, 2016
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.
Shastry S et al.
American Journal of Medical Genetics. Part A, 2010
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