Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

Calpainopathy, also known as limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) or LGMD R1 Calpain3-related, is one of the most common genetically characterized forms of limb-girdle muscular dystrophy with a wide range of phenotypic severity. We evaluated a consanguineous family with a clinical...

Full description

Saved in:
Bibliographic Details
Main Authors: Hu, Ying, Mohassel, Payam, Donkervoort, Sandra, Yun, Pomi, Bolduc, Véronique, Ezzo, Daniel, Dastgir, Jahannaz, Marshall, Jamie L., Lek, Monkol, MacArthur, Daniel G., Foley, A. Reghan, Bönnemann, Carsten G.
Format: Text
Language:English
Published: 2019
Subjects:
Article
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC7522968/
https://pubmed.ncbi.nlm.nih.gov/31498126
http://dx.doi.org/10.3233/JND-190414
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC7522968/
https://pubmed.ncbi.nlm.nih.gov/31498126
http://dx.doi.org/10.3233/JND-190414

Similar Items