NMD-GPS_NME-058_Quadriceps_triplicate_DIA
Ontology highlight
ABSTRACT:
INSTRUMENT(S):
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Quadriceps
DISEASE(S): Congenital Myopathy
SUBMITTER: 
Marc Pauper
LAB HEAD: Andreas Roos
PROVIDER: PXD065567 | Pride | 2026-06-15
REPOSITORIES: Pride
Dataset's files
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Publications
A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies.
Pauper Marc M Kölbel Heike H Karakesisoglou Iakowos I Schänzer Anne A Böhm Johann J Thompson Rachel R Kohlschmidt Nicolai N Ringel Bernd B Bonne Gisèle G Neuhoff Katja K Gangfuß Andrea A Kilicarslan Ozge Aksel OA Agullo Sergi Beltran SB Hentschel Andreas A Schara-Schmidt Ulrike U Lochmüller Hanns H Polavarapu Kiran K Roos Andreas A
Brain pathology (Zurich, Switzerland) 20260303 4
Proteomics-guided exome re-analysis identifies bi-allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92. ...[more]
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