A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

• Main Authors: Joanna Oswiecimska (Author), Mateusz Dawidziuk (Author), Tomasz Gambin (Author), Katarzyna Ziora (Author), Marta Marek (Author), Sylwia Rzonca (Author), D. Lys Guilbride (Author), Shalini N. Jhangiani (Author), Anna Obuchowicz (Author), Alicja Sikora (Author), James R. Lupski (Author), Wojciech Wiszniewski (Author), Pawel Gawlinski (Author)
• Format: Book
• Published: Galenos Yayincilik, 2019-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an unusual additional development of non-diabetic pe...