DMD c.2380+3A>C

Variant ID: X-32519869-T-G

NM_004006.2(DMD):c.2380+3A>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay.

Scientific Reports
Koeks, Z Z; Janson, A A AA; Beekman, C C; Signorelli, M M; van Duyvenvoorde, H A HA; van den Bergen, J C JC; Hooijmans, M T MT; Alleman, I I; Hegeman, I M IM; Verschuuren, J J G M JJGM; V Deutekom, J C JC; Spitali, P P; Datson, N A NA; Niks, E H EH
Publication Date: 2021-03-15

Variant appearance in text: DMD: 2380+3A>C
PubMed Link: 33723284
Variant Present in the following documents:
  • 41598_2021_84863_MOESM1_ESM.pdf
View BVdb publication page



Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy.

Plos One
Beekman, Chantal C; Janson, Anneke A AA; Baghat, Aabed A; van Deutekom, Judith C JC; Datson, Nicole A NA
Publication Date: 2018

Variant appearance in text: DMD: 2380+3A>C
PubMed Link: 29641567
Variant Present in the following documents:
  • pone.0195850.s004.pdf
View BVdb publication page



A sensitive, reproducible and objective immunofluorescence analysis method of dystrophin in individual fibers in samples from patients with duchenne muscular dystrophy.

Plos One
Beekman, Chantal C; Sipkens, Jessica A JA; Testerink, Janwillem J; Giannakopoulos, Stavros S; Kreuger, Dyonne D; van Deutekom, Judith C JC; Campion, Giles V GV; de Kimpe, Sjef J SJ; Lourbakos, Afrodite A
Publication Date: 2014

Variant appearance in text: DMD: 2380+3A>C
PubMed Link: 25244123
Variant Present in the following documents:
  • Main text
View BVdb publication page