Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy
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DOI: 10.1186/s40842-020-00100-9
Abstract: Classical heterozygous pathogenic variants of the lamin A/C (LMNA) gene cause autosomal dominant familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of LMNA pathogenic variants, and a few patients… read more here.
Keywords: lmna r582h; lipodystrophy; fat loss; loss ... See more keywords