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2 Possible Causes for Lytic Cystic Lesions in Appendicular Bones

  • Congenital Generalized Lipodystrophy Type 2

    A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2)[…][]

  • Congenital Generalized Lipodystrophy Type 1

    Congenital generalized lipodystrophy type 1 (CGL1) is a rare metabolic disorder inherited in an autosomal recessive pattern. It has been related to mutations of the AGPAT2 gene. Affected individuals are greatly lacking body fat, but preserve mechanical adipose tissue. Despite recent advances in CGL1 therapy -[…][]

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