Severe adolescent-onset limb-girdle muscular dystrophy due to a novel homozygous nonsense BVES variant
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference8 articles.
1. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking;Schindler;J. Clin. Invest.,2016
2. The Popeye domain containing genes and their function as cAMP effector proteins in striated muscle;Brand;J Cardiovasc Dev Dis,2018
3. Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES;Indrawati;Neuromuscul. Disord.,2020
4. Muscular dystrophy with arrhythmia caused by loss-of- function mutations in BVES;De Ridder;Neurol. Genet.,2019
5. Facioscapulohumeral Muscular Dystrophy;Statland;Continuum (Minneap Minn),2016
Cited by 9 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. A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype;Neuromuscular Disorders;2023-05
2. Defective BVES-mediated feedback control of cAMP in muscular dystrophy;Nature Communications;2023-03-30
3. Systemic AAV9.BVES delivery ameliorates muscular dystrophy in a mouse model of LGMDR25;Molecular Therapy;2023-02
4. Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking;Acta Neuropathologica Communications;2023-01-09
5. Differential Effects of Mutations of Popeye Domain Containing Proteins on Heteromeric Interaction and Membrane Trafficking;2022-10-17
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