Emery-Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia

Leone Maria Pia, Mastroianno Sandra, Castellana Stefano, Palumbo Pietro, Paola Crociani, Russo Aldo, Di Stolfo Giuseppe, Carella Massimo

Research output: Contribution to journalArticle

Abstract

Hypertrophic cardiomyopathy could be part of a more complex syndrome like Emery-Dreifuss muscular dystrophy type 4. Genetic analysis allowed to identify a de novo heterozygous missense mutation in SYNE1 gene (chr6:152665253:G > C), supporting physician to reach a correct diagnosis in patient affected by cardiomyopathy associated with a difficult clinical scenario.

Original languageEnglish
Pages (from-to)1078-1082
Number of pages5
JournalClinical Case Reports
Volume7
Issue number5
DOIs
Publication statusPublished - May 1 2019

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Keywords

  • Emery-Dreifuss muscular dystrophy type 4
  • hypertrophic cardiomyopathy
  • SYNE1 mutation

ASJC Scopus subject areas

  • Medicine(all)

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