Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy

Keyphrases

• Whole Exome Sequencing 100%
• Dilated Cardiomyopathy 100%
• Homozygote 100%
• Nonsense Variant 100%
• LMOD2 100%
• Sarcomere 60%
• Thin Filament 60%
• Cardiomyopathy 40%
• Biallelic Variants 40%
• Gain-of-function mutation 20%
• Histopathological Features 20%
• Protein Expression 20%
• Hispanic 20%
• Acute Decompensated Heart Failure 20%
• Proband 20%
• Late-onset 20%
• Phenotypic Characteristics 20%
• Heart Function 20%
• Actin Filaments 20%
• Myocardial Biopsy 20%
• Male Infant 20%
• Z-disc 20%
• Actin-binding Proteins 20%
• Cardiac Thin Filament 20%
• Leiomodin 20%
• Maturation Function 20%
• Myosin Filaments 20%
• Sarcomere Structure 20%
• Filament Elongation 20%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Homozygote 100%
• Heart Function 50%
• Protein Expression 50%
• Actin 50%
• Maturation 50%
• Proband 50%
• Infancy 50%
• Actin-Binding Protein 50%
• Myosin 50%