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.

Ruggiero, L., Fiorillo, C., Gibertini, S., De Stefano, F., Manganelli, F., Iodice, R., et al. (2015). A rare mutation in MYH7 gene occurs with overlapping phenotype. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 457(3), 262-266 [10.1016/j.bbrc.2014.12.098].

A rare mutation in MYH7 gene occurs with overlapping phenotype

GIBERTINI, SARA;ZANOTTI, SIMONA;
2015

Abstract

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.
Articolo in rivista - Articolo scientifico
Cardiomyopathy; FTD; Laing Distal Myopathy; Left ventricular non-compation; MYH7; Overlapping syndrome;
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)
English
2015
457
3
262
266
reserved
Ruggiero, L., Fiorillo, C., Gibertini, S., De Stefano, F., Manganelli, F., Iodice, R., et al. (2015). A rare mutation in MYH7 gene occurs with overlapping phenotype. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 457(3), 262-266 [10.1016/j.bbrc.2014.12.098].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/88345
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