Associated Papers
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S10
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner LM et al.
Journal of Personalized Medicine, 2022
35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYH7
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Sarcomeric myopathies associated with tremor: new insights and perspectives.
Stavusis J et al.
Journal of Muscle Research and Cell Motility, 2020
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.
Viswanathan SK et al.
Plos One, 2017
Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.
Romero NB et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ et al.
Human Mutation, 2014
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
Cullup T et al.
Neuromuscular Disorders : Nmd, 2012
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