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

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

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...

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Bibliographic Details
Main Authors: Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski
Format: Article
Language:English
Published: Galenos Yayincilik 2019-09-01
Series:JCRPE
Subjects:
Berardinelli-Seip syndrome
seipinopathy
congenital generalized lipodystrophy
polyneuropathy
AGPAT2
fat biology
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/a-patient-with-berardinelli-seip-syndrome-novel-ia/20613

Internet

http://www.jcrpe.org/archives/archive-detail/article-preview/a-patient-with-berardinelli-seip-syndrome-novel-ia/20613

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