Associated Papers
A novel likely pathogenic variant in the mitochondrial ribosomal protein L44 (MRPL44) associated with hypertrophic cardiomyopathy in Tunisian patients.
Gargouri R et al.
Molecular Biology Reports, 2025
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
Friederich MW et al.
Molecular Genetics and Metabolism, 2021
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