DMD c.1724T>C ;(p.L575P)

Variant ID: X-32591735-A-G

NM_004006.2(DMD):c.1724T>C;(p.L575P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.

Acta Neuropathologica Communications
Becker, Nicole N; Moore, Steven A SA; Jones, Karra A KA
Publication Date: 2022-02-08

Variant appearance in text: DMD: 1724T>C; L575P
PubMed Link: 35135626
Variant Present in the following documents:
  • 40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page



The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.

Acta Neuropathologica Communications
Becker, Nicole N; Moore, Steven A SA; Jones, Karra A KA
Publication Date: 2022-02-08

Variant appearance in text: DMD: 1724T>C; L575P
PubMed Link: 35135626
Variant Present in the following documents:
  • 40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page



Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

Muscle & Nerve
Veerapandiyan, Aravindhan A; Shashi, Vandana V; Jiang, Yong-Hui YH; Gallentine, William Brian WB; Schoch, Kelly K; Smith, Edward Clinton EC
Publication Date: 2010-12

Variant appearance in text: DMD: 1724T>C; Leu575Pro
PubMed Link: 21104870
Variant Present in the following documents:
  • Main text
View BVdb publication page