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Article

Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Sept 2022

Vu Nhung Phuong, Tran Hai Thi, Vu Nga Bich, Ma Thuong Thi Huyen, Nguyen Ton Dang, Nong Hai Van, Nguyen Ha Hai

Abstract excerpt

OBJECTIVES: Familial partial lipodystrophy type 2 is the most well-known subtype of lipodystrophy. We describe for the first time the phenotype of a case with lipodystrophy, who carried heterozygous mutation c.G1394A (p.G465D) in the LMNA gene. CASE PRESENTATION: A 17-year-old girl was diagnosed with FPLD2 due to severe loss of subcutaneous fat in the extremities, buttocks and metabolic complications. However,...

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Identifiers

PMID: 35822709
DOI: 10.1515/jpem-2022-0208

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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