参考资料1.Oral EA, Gorden P, Cochran E, Araújo-Vilar D, Savage DB, Long A, Fine G, Salinardi T, Brown RJ. Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy. Endocrine. 2019 Jun;64(3):500-511. doi: 10.1007/s12020-019-01862-8...
不同类型脂肪萎缩综合征的发病机制和临床特点不尽相同;其中,先天性家族性部分脂肪萎缩综合征2型(familial partial lipodystrophy type 2, FPLD2)以LMNA基因突变为主,突变类型具有多态性,发病率极低,多在青春期起病,主要表现为四肢、腹部和胸部的脂肪丢失,而颏部和锁骨上区的皮下脂肪堆积,伴有严重的代谢综合征,可...
LipodystrophyMutations in the LMNA gene, encoding the nuclear intermediate filaments the A-type lamins, result in a wide variety of diseases known as laminopathies. Some of them, such as familial partial lipodystrophy of Dunnigan and metabolic laminopathies, are characterized by ...
lipodystrophy, Charcot–Marie–Tooth disease andprogeroid syndrome, etc. LGMD1B is characterized by slowly progressive proximal weakness together with cardiacconduction defectsorcardiomyopathy. The age of disease onset is variable, ranging from childhood to adult. Themuscle weaknessis usually mild but, ...
A and B. Through alternate splicing, this gene encodes three type A lamin isoforms. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilf...
LMNA基因突变所致先天性家族性部分脂肪萎缩综合征2型的临床遗传学研究要点
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dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy. In addition, the expression of A-type lamins coincides with cell differentiation and as A-type lamins specifically interact with chromatin, a role in the regulation of differential gene expression has ...
Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022] Amplicon Information Amplicon ...
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy El hecho que se considere solo probandos para el analisis cuyo componente sea la resistencia a la insulina (DM2 puros), esto permite sugerir que el SNP rs1345365 es un factor de predi...