title: A rare mutation in MYH7 gene occurs with overlapping phenotype.
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.
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address: ruggilucia@gmail.com.
authors.forename: Lucia
authors.initials: L
authors.lastname: Ruggiero
authors.affiliation: Laboratory of Molecular Medicine and Neuromuscolar Disorder IRCCS Stella Maris Calambrone, Pisa, Italy. Electronic address: Chi.fiorillo@gmail.com.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fiorillo
authors.affiliation: IRCCS Foundation Neurological Institute, Isituto C. Besta, Via Giovanni Celoria 11, 20133 Milan, Italy. Electronic address: Sara.Gibertini@istituto-besta.it.
authors.forename: Sara
authors.initials: S
authors.lastname: Gibertini
authors.affiliation: Department of Medical Translational Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address: fradestefano@alice.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: De Stefano
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address: fioremanganelli@gmail.com.
authors.forename: Fiore
authors.initials: F
authors.lastname: Manganelli
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address: rosaiodice81@gmail.com.
authors.forename: Rosa
authors.initials: R
authors.lastname: Iodice
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address: florisea@tin.it.
authors.forename: Floriana
authors.initials: F
authors.lastname: Vitale
authors.affiliation: IRCCS Foundation Neurological Institute, Isituto C. Besta, Via Giovanni Celoria 11, 20133 Milan, Italy. Electronic address: simona.zanotti@istituto-besta.it.
authors.forename: Simona
authors.initials: S
authors.lastname: Zanotti
authors.affiliation: Department of Medical Translational Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address: mgalderi@unina.it.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Galderisi
authors.affiliation: IRCCS Foundation Neurological Institute, Isituto C. Besta, Via Giovanni Celoria 11, 20133 Milan, Italy. Electronic address: mmora@istituto-besta.it.
authors.forename: Marina
authors.initials: M
authors.lastname: Mora
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address: lusantor@unina.it.
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D001483:Base Sequence; D024722:Cardiac Myosins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D056726:Genetic Association Studies; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D050505:Mutant Proteins / Q000235:genetics*; D020125:Mutation, Missense; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D014463:Ultrasonography
chemical_list: C501641:MYH7 protein, human; D050505:Mutant Proteins; D004247:DNA; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains
keywords: Cardiomyopathy; FTD; Laing Distal Myopathy; Left ventricular non-compation; MYH7; Overlapping syndrome