Associated Papers
Case report: Rare novel MIPEP compound heterozygous variants presenting with hypertrophic cardiomyopathy, severe lactic acidosis and hypotonia in a Chinese infant.
Wang L et al.
Frontiers in Cardiovascular Medicine, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK et al.
Genome Medicine, 2017
28327206 (PubMed )
Supplement: 13073_2017_412_MOESM3_ESM.xlsx › Sheet1
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Eldomery MK et al.
Genome Medicine, 2016
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