Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

M, Kwapich; D, Lacroix; S, Espiard; S, Ninni; F, Brigadeau; C, Kouakam; P, Degroote; JM, Laurent; V, Tiffreau; A, Jannin; L, Humbert; Hamou A, Ben; C, Tard; Yaou R, Ben; N, Lamblin; D, Klug; P, Richard; C, Vigouroux; G, Bonne; MC, Vantyghem

doi:10.1016/j.diabet.2018.09.006

Public

Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

Shared by NobleBlocks on Oct 1, 2018 • 12:00 AM UTC

Authors:

Kwapich M

Lacroix D

Espiard S

Abstract

Aims Mutations of the LMNA gene encoding lamin A/C induce heterogeneous phenotypes ranging from cardiopathies and myopathies to lipodystrophies. The aim of this study was to compare cardiometabolic complications in patients with heterozygous LMNA mutations at the 482nd codon, the 'hotspot' for parti...

Subject

coronary artery disease

Lipodystrophy

Laminopathy

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