A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release f...

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Bibliographic Details
Main Authors: Valentina Mancioppi, Tommaso Daffara, Martina Romanisio, Giovanni Ceccarini, Caterina Pelosini, Ferruccio Santini, Simonetta Bellone, Simona Mellone, Alessio Baricich, Ivana Rabbone, Gianluca Aimaretti, Baris Akinci, Mara Giordano, Flavia Prodam
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Endocrinology
Subjects:
lipodystrophy
CGL4
PTRF
adipose tissue
leptin
muscular dystrophy
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1212729/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2023.1212729/full

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