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Article

Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008

Mory Patricia B, Crispim Felipe, Kasamatsu Teresa, Gabbay Monica A L, Dib Sergio A, Moisés Regina S

Abstract excerpt

Lipodystrophies are a group of heterogeneous disorders characterized by the loss of adipose tissue and metabolic complications. The main familial forms of lipodystrophy are Congenital Generalized Lipodystrophy and Familial Partial Lipodystrophy (FPLD). FPLD may result from mutations in the LMNA gene. Besides FPLD, mutations in LMNA have been shown to be responsible for other inherited diseases called...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19169477
DOI: 10.1590/s0004-27302008000800008

Genes

LMNA

Variants

Provenance

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