Title: | Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation |
Journal : | Journal of Neuromuscular Diseases |
Authors: | Hu Y, Author ; Mohassel P ; Donkervoort S ; Yun P ; Bolduc V ; Ezzo D ; Dastgir J ; Marshall JL ; Lek M ; Macarthur DG ; Reghan Foley A ; Bonnemann CG |
Material Type: | Article |
Publisher: | Netherlands, 08/2019 |
Languages: | English |
Keywords : | Calpain-3-related limb-girdle muscular dystrophy R1 ; calpainopathy ; CAPN3 gene ; case studies ; disease-causing mutation ; limb girdle muscular dystrophy ; neuromuscular disease |
Keywords: | Calpainopathy;LGMD2A;deep intronic mutation;phosphorodiamidate morpholino oligomer (PMO); |
Pubmed / DOI : | Pubmed : 31498126 / DOI : 10.3233/JND-190414 |
N° Profil MNM : | 2019092 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31498126 |