GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

DSpace Repository

GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

Author: Mensch, Alexander; Cordts, Isabell; Scholle, Leila; Joshi, Pushpa Raj; Kleeberg, Kathleen; Emmer, Alexander; Beck-Woedl, Stefanie; Park, Joohyun; Haack, Tobias B.; Stoltenburg-Didinger, Gisela; Zierz, Stephan; Deschauer, Marcus
Tübinger Autor(en):
Park, Joohyun
Beck-Wödl, Stefanie
Haack, Tobias
Published in: Journal of Neuromuscular Diseases (2022), Bd. 9, H. 4, S. 533-541
Verlagsangabe: Ios Press
Language: English
Full text: http://dx.doi.org/10.3233/JND-220822
ISSN: 2214-3599
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
Show full item record

This item appears in the following Collection(s)