Lipodystrophies are rare, heterogeneous, genetic or acquired, disorders characterised by
varying degrees of body fat loss and associated metabolic complications, including insulin …

Context Lipodystrophy syndromes are a heterogeneous group of rare genetic or acquired
disorders characterized by generalized or partial loss of adipose tissue. LMNA-related …

Context Familial partial lipodystrophy (FPLD) is most commonly caused by pathogenic
variants in LMNA and PPARG. Leptin replacement with metreleptin has largely been studied …

Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause
multiple diseases ('laminopathies') including muscular dystrophy, dilated cardiomyopathy …

LMNA 基因突变相关脂肪萎缩综合征(lipodystrophy syndrome) 是一组由A 型核纤层蛋白(lamin
A/C, LMNA) 基因突变引起的常染色体显性遗传单基因疾病, 以选择性脂肪缺失伴胰岛素抵抗等 …

Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar
brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and …

脂肪萎缩性糖尿病是一组以全身或局部脂肪营养不良为特征的高度异质性糖尿病.
可以作为脂肪营养不良综合征的表现之一, 也可以表现为单基因糖尿病. 该疾病常伴随严重 …

Lipodystrophies are a genetically heterogeneous group of disorders characterized by loss of
subcutaneous adipose tissue and metabolic dysfunction, including insulin resistance …

Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two
forms of renal disease (RD) have traditionally been described. The less common form is the …

Lipodystrophy is a rare lipid storage disorder that is characterized by a loss of adipose
tissue. It can be inherited due to monogenic mutation or acquired by medication and …