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Article

A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.

Journal of diabetes investigation - 1 Oct 2023

Huang Shipeng, Zhang Yan, Zhan Zuan, Gong Shuhao

Abstract excerpt

The term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodystrophy-associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene...

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Identifiers

PMID: 37448194
DOI: 10.1111/jdi.14055
PMCID: PMC10512909

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A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.PMID 37448194Read ↗

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