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Overview of Congenital Generalised Lipodystrophy (CGL) with Genetic Insights

Congenital Generalised Lipodystrophy (CGL) is characterized by significant fat loss in areas such as the scalp, retroorbital region, periarticular regions, palms, and soles, which can be observed via whole-body MRI. The condition often shows an autosomal recessive inheritance pattern and can be associated with additional complications like mental retardation and cardiomyopathy. Genetic sequencing can reveal mutations in genes like BSCL2 and AGPAT2, which are crucial for understanding individualized treatment approaches for affected patients.

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Overview of Congenital Generalised Lipodystrophy (CGL) with Genetic Insights

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  1. Congenital Generalised Lipodystrophy (CGL) Significant fat loss observed in the scalp, retroorbital region, periarticular regions, palms and soles on whole body MRI CGL with FH consistent with AR inheritance CGL with mental retardation CGL with cardiomyopathy BSCL2 sequencing AGPAT2 sequencing BSCL2 sequencing BSCL2 sequencing BSCL2 sequencing AGPAT2 sequencing AGPAT2 sequencing

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