A rare mutation in MYH7 gene occurs with overlapping phenotype

Lucia Ruggiero, Chiara Fiorillo, Sara Gibertini, Francesco De Stefano, Fiore Manganelli, Rosa Iodice, Floriana Vitale, Simona Zanotti, Maurizio Galderisi, Marina Mora, Lucio Santoro

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)262-266
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume457
Issue number3
DOIs
Publication statusPublished - Feb 13 2015

Keywords

  • Cardiomyopathy
  • FTD
  • Laing Distal Myopathy
  • Left ventricular non-compation
  • MYH7
  • Overlapping syndrome

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology
  • Medicine(all)

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