Associated Papers
[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients].
Oliveros-Acuña N et al.
Revista De Neurologia, 2024
Tracking updates in clinical databases increases efficiency for variant reanalysis.
Li L et al.
Genetics in Medicine Open, 2024
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.
Bourfiss M et al.
Circulation. Genomic and Precision Medicine, 2022
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 2021
Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene.
Surikova Y et al.
Gene, 2019
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Fiorillo C et al.
Orphanet Journal of Rare Diseases, 2016
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.
Pajusalu S et al.
Neuromuscular Disorders : Nmd, 2016
Select a paper to view details