Diagnostic delay in patients with FKRP-related muscular dystrophy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference23 articles.
1. The classification, natural history and treatment of the limb girdle muscular dystrophies;Murphy;J Neuromuscul Dis,2015
2. Dystroglycanopathies: coming into focus;Godfrey;Curr Opin Genet Dev,2011
3. Dystroglycan: from biosynthesis to pathogenesis of human disease;Barresi;J Cell Sci,2006
4. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of alpha-dystroglycan and muscular dystrophy;Larson;Skelet Muscle,2018
5. Dystroglycanopathies: about numerous genes involved in glycosylation of one single glycoprotein;Bouchet-Seraphin;J Neuromuscul Dis,2015
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Muscle weakness (genetic muscle diseases);Neurogenetics for the Practitioner;2024
2. Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020);Neuromuscular Disorders;2023-02
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