Sagit Zolotov Chao Xing Riad Mahamid Adel Shalata Mohammed Sheikh-Ahmad Abhimanyu Garg
10.1002/ajmg.a.37880
Am J Med Genet A
2017 Jan;173(1):190-194.
hormone sensitive lipase insulin resistance lipodystrophy multiple symmetric lipomatosis myopathy
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/27862896/
Homozygote Lipodystrophy / genetics Lipomatosis, Multiple Symmetrical / genetics Muscular Diseases / genetics Mutation Siblings Sterol Esterase / genetics
Homozygote Lipodystrophy / genetics Lipomatosis, Multiple Symmetrical / genetics Muscular Diseases / genetics Mutation Siblings Sterol Esterase / genetics Case Reports Adult Aged Biomarkers DNA Mutational Analysis Exome Female Genetic Association Studies Genotype Humans Lipodystrophy / diagnosis Lipodystrophy / metabolism Lipomatosis, Multiple Symmetrical / diagnosis Lipomatosis, Multiple Symmetrical / metabolism Male Middle Aged Muscular Diseases / diagnosis Muscular Diseases / metabolism Pedigree Phenotype Young Adult Biomarkers Sterol Esterase
PMC5788284
27862896
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy
2017