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

• Principais autores: Joanna Oswiecimska (Autor), Mateusz Dawidziuk (Autor), Tomasz Gambin (Autor), Katarzyna Ziora (Autor), Marta Marek (Autor), Sylwia Rzonca (Autor), D. Lys Guilbride (Autor), Shalini N. Jhangiani (Autor), Anna Obuchowicz (Autor), Alicja Sikora (Autor), James R. Lupski (Autor), Wojciech Wiszniewski (Autor), Pawel Gawlinski (Autor)
• Formato: Livro
• Publicado em: Galenos Yayincilik, 2019-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...