Ying Hu Payam Mohassel Sandra Donkervoort Pomi Yun Véronique Bolduc Daniel Ezzo Jahannaz Dastgir Jamie L Marshall Monkol Lek Daniel G MacArthur A Reghan Foley Carsten G Bönnemann
10.3233/JND-190414
J Neuromuscul Dis
2019;6(4):475-483.
calpainopathy lgmd2a deep intronic mutation phosphorodiamidate morpholino oligomer (pmo)
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/31498126/
Calpain / genetics Muscle Proteins / genetics Muscular Dystrophies, Limb-Girdle / genetics Mutation / genetics RNA Splicing / genetics
Calpain / genetics Muscle Proteins / genetics Muscular Dystrophies, Limb-Girdle / genetics Mutation / genetics RNA Splicing / genetics Case Reports Adult Homozygote Humans Muscular Dystrophies, Limb-Girdle / diagnosis Muscular Dystrophies, Limb-Girdle / therapy RNA, Messenger / metabolism Muscle Proteins RNA, Messenger CAPN3 protein, human Calpain Limb-girdle muscular dystrophy type 2A
PMC7522968
31498126
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation
2019