Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.
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چکیده
منابع مشابه
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.
Familial lipodystrophy (referred to in publications as the Köbberling-Dunnigan syndrome) comprises at least two clinical phenotypes which are consistent within each pedigree. In type 1 familial lipodystrophy, loss of subcutaneous fat is confined to the limbs, sparing the face and trunk. In type 2 familial lipodystrophy, the trunk is also affected with the exception of the vulva, giving an appea...
متن کاملKöbberling type of familial partial lipodystrophy: an underrecognized syndrome.
OBJECTIVE The phenotypic expression of partial lipodystrophy is present in two familial syndromes: familial partial lipodystrophy type 1 (FPLD1), with fat loss from the extremities, and central obesity and FPLD type 2, with fat loss from the extremities, abdomen, and thorax. The latter disorder is associated with mutations in the LMNA gene. FPLD1 is thought to be rare. Here, we report 13 subjec...
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چکیده ندارد.
15 صفحه اولStructure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD).
Proteins of the A-type lamin family, which consists of two members, lamin A and lamin C, are the major components of a thin proteinaceous filamentous meshwork, the lamina, that underlies the inner nuclear membrane. A-type lamins have recently become the focus of extensive functional studies as a consequence of the linking of at least eight congenital diseases to mutations in the lamin A/C gene ...
متن کاملEvaluation of epicardial adipose tissue in familial partial lipodystrophy
BACKGROUND Dunnigan type Familial Partial Lipodystrophy (FPLD) is characterized by loss of subcutaneous fat from the limbs and excessive accumulation on the visceral adipose tissue (VAT). Affected individuals have insulin resistance (IR), diabetes, dyslipidemia and early cardiovascular (CV) events, due to their imbalanced distribution of total body fat (TBF). Epicardial adipose tissue (EAT) is ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1986
ISSN: 1468-6244
DOI: 10.1136/jmg.23.2.120