Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference17 articles.
1. Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis;Cabrera-Serrano;Brain,2021
2. Structural analysis of obscurin gene in hypertrophic cardiomyopathy;Arimura;Biochem Biophys Res Commun,2007
3. Obscurin variants and inherited cardiomyopathies;Marston;Biophys Rev,2017
4. Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy;Wu;Circ Genom Precis Med,2021
5. A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy;Rossi;PLoS One,2017
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