DMD c.192dup ;(p.E65Rfs*24)

Variant ID: X-32862971-C-CT

NM_004006.2(DMD):c.192dup;(p.E65Rfs*24)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Histopathological correlations and fat replacement imaging patterns in recessive limb-girdle muscular dystrophy type 12.

Journal Of Cachexia, Sarcopenia And Muscle
De Wel, Bram B; Huysmans, Lotte L; Depuydt, Christophe E CE; Goosens, Veerle V; Peeters, Ronald R; Santos, Filipa P FP; Thal, Dietmar R DR; Dupont, Patrick P; Maes, Frederik F; Claeys, Kristl G KG
Publication Date: 2023-04-20

Variant appearance in text: DMD: 191dupA
PubMed Link: 37078404
Variant Present in the following documents:
  • Main text
View BVdb publication page



The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.

European Journal Of Neurology
Kruijt, N N; van den Bersselaar, L R LR; Kamsteeg, E J EJ; Verbeeck, W W; Snoeck, M M J MMJ; Everaerd, D S DS; Abdo, W F WF; Jansen, D R M DRM; Erasmus, C E CE; Jungbluth, H H; Voermans, N C NC
Publication Date: 2021-02

Variant appearance in text: DMD: 191dup
PubMed Link: 32978841
Variant Present in the following documents:
  • ENE-28-647.pdf
View BVdb publication page