Associated Papers
Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.
Viswanathan MC et al.
Genetics, 2025
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
39237976 (PubMed )
Supplement: 12920_2024_2000_MOESM1_ESM.docx
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S5
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant.
Serra W et al.
Heliyon, 2022
Disease mutations in striated muscle myosins.
Parker F et al.
Biophysical Reviews, 2020
32651905 (PubMed )
Supplement: 12551_2020_721_MOESM1_ESM.pdf
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.
Viswanathan MC et al.
Human Molecular Genetics, 2017
Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.
Brand P et al.
Neuromuscular Disorders : Nmd, 2016
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.
Yüceyar N et al.
Neuromuscular Disorders : Nmd, 2015
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