A rare mutation in MYH7 gene occurs with overlapping phenotype
Copyright policy )A rare mutation in MYH7 gene occurs with overlapping phenotype
Mutations in the beta-myosin heavy chain gene (MYH7) cause different muscle disorders. The specific molecular pathobiological processes that cause these different phenotypes remains unexplained. We describe three members of a family with an autosomal dominant mutation in the distal rod of MYH7 [c.5401G> A (p.Glu1801Lys)] displaying a complex phenotype characterized by Laing Distal Myopathy like phenotype, left ventricular non compaction cardiomyopathy and Fiber Type Disproportion picture at muscle biopsy. We suggest that this overlapping presentation confirm the phenotypic variability of MYH7 myopathy and may be helpful to improve the genotype phenotype correlation.
- University of Milano-Bicocca Italy
- San Antonio River Authority United States
- University of Genoa Italy
- University Federico II of Naples Italy
Cardiomyopathy; FTD; Laing Distal Myopathy; Left ventricular non-compation; MYH7; Overlapping syndrome; Adult; Aged; Amino Acid Substitution; Base Sequence; Cardiac Myosins; DNA; DNA Mutational Analysis; Distal Myopathies; Female; Genes, Dominant; Genetic Association Studies; Humans; Isolated Noncompaction of the Ventricular Myocardium; Male; Mutant Proteins; Myopathies, Structural, Congenital; Myosin Heavy Chains; Pedigree; Ultrasonography; Mutation, Missense, Adult, Male, DNA Mutational Analysis, Mutation, Missense, Cardiomyopathy; FTD; Laing Distal Myopathy; Left ventricular non-compation; MYH7; Overlapping syndrome;, Humans, Genetic Association Studies, Aged, Genes, Dominant, Ultrasonography, Isolated Noncompaction of the Ventricular Myocardium, Base Sequence, Myosin Heavy Chains, DNA, Cardiomyopathy; FTD; Laing Distal Myopathy; Left ventricular non-compation; MYH7; Overlapping syndrome; Adult; Aged; Amino Acid Substitution; Base Sequence; Cardiac Myosins; DNA; DNA Mutational Analysis; Distal Myopathies; Female; Genes, Dominant; Genetic Association Studies; Humans; Isolated Noncompaction of the Ventricular Myocardium; Male; Mutant Proteins; Myopathies, Structural, Congenital; Myosin Heavy Chains; Pedigree; Mutation, Missense; Biochemistry; Biophysics; Cell Biology; Molecular Biology; Medicine (all), Pedigree, Distal Myopathies, Amino Acid Substitution, Female, Mutant Proteins, Cardiac Myosins, Myopathies, Structural, Congenital
Cardiomyopathy; FTD; Laing Distal Myopathy; Left ventricular non-compation; MYH7; Overlapping syndrome; Adult; Aged; Amino Acid Substitution; Base Sequence; Cardiac Myosins; DNA; DNA Mutational Analysis; Distal Myopathies; Female; Genes, Dominant; Genetic Association Studies; Humans; Isolated Noncompaction of the Ventricular Myocardium; Male; Mutant Proteins; Myopathies, Structural, Congenital; Myosin Heavy Chains; Pedigree; Ultrasonography; Mutation, Missense, Adult, Male, DNA Mutational Analysis, Mutation, Missense, Cardiomyopathy; FTD; Laing Distal Myopathy; Left ventricular non-compation; MYH7; Overlapping syndrome;, Humans, Genetic Association Studies, Aged, Genes, Dominant, Ultrasonography, Isolated Noncompaction of the Ventricular Myocardium, Base Sequence, Myosin Heavy Chains, DNA, Cardiomyopathy; FTD; Laing Distal Myopathy; Left ventricular non-compation; MYH7; Overlapping syndrome; Adult; Aged; Amino Acid Substitution; Base Sequence; Cardiac Myosins; DNA; DNA Mutational Analysis; Distal Myopathies; Female; Genes, Dominant; Genetic Association Studies; Humans; Isolated Noncompaction of the Ventricular Myocardium; Male; Mutant Proteins; Myopathies, Structural, Congenital; Myosin Heavy Chains; Pedigree; Mutation, Missense; Biochemistry; Biophysics; Cell Biology; Molecular Biology; Medicine (all), Pedigree, Distal Myopathies, Amino Acid Substitution, Female, Mutant Proteins, Cardiac Myosins, Myopathies, Structural, Congenital
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