نتایج جستجو برای: hutchinson gilford
تعداد نتایج: 1970 فیلتر نتایج به سال:
BACKGROUND Hutchinson-Gilford progeria syndrome is an extremely rare, fatal, segmental premature aging syndrome caused by a mutation in LMNA yielding the farnesylated aberrant protein progerin. Without progerin-specific treatment, death occurs at an average age of 14.6 years from an accelerated atherosclerosis. A previous single-arm clinical trial demonstrated that the protein farnesyltransfera...
INTRODUCTION Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported ...
T he autosomal dominant form of Emery-Dreifuss muscular dystrophy (EDMD2; OMIM #181350) was the first disorder to be associated with mutations in the LMNA gene, encoding the nuclear envelope proteins lamin A and C. Following this, other mutations were reported in limb girdle muscular dystrophy with atrioventricular conduction defects (LGMD1B; OMIM #159001) and a conduction system disease with d...
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