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
Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.
Takeyari S et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2019
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.
Murakami N et al.
Neuromuscular Disorders : Nmd, 2013
Lipodystrophy and muscular dystrophy caused by PTRF mutations.
de Haan W
Clinical Genetics, 2010
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
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.
Dwianingsih EK et al.
Molecular Genetics and Metabolism, 0
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