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

doi:10.1002/ccr3.2140

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

IRCCS Casa Sollievo della Sofferenza

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	1078-1082
Number of pages	5
Journal	Clinical Case Reports
Volume	7
Issue number	5
DOIs	https://doi.org/10.1002/ccr3.2140
Publication status	Published - May 1 2019

Keywords

Emery-Dreifuss muscular dystrophy type 4
hypertrophic cardiomyopathy
SYNE1 mutation

ASJC Scopus subject areas

Medicine(all)

Access to Document

10.1002/ccr3.2140

Cite this

@article{b426878690a045a89778ce665f498f46,

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

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.",

keywords = "Emery-Dreifuss muscular dystrophy type 4, hypertrophic cardiomyopathy, SYNE1 mutation",

author = "{Maria Pia}, Leone and Mastroianno Sandra and Castellana Stefano and Palumbo Pietro and Paola Crociani and Russo Aldo and Giuseppe, {Di Stolfo} and Carella Massimo",

year = "2019",

month = may,

day = "1",

doi = "10.1002/ccr3.2140",

language = "English",

volume = "7",

pages = "1078--1082",

journal = "Clinical Case Reports",

issn = "2050-0904",

publisher = "John Wiley and Sons Ltd",

number = "5",

}

TY - JOUR

T1 - Emery-Dreifuss muscular dystrophy type 4

T2 - A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia

AU - Maria Pia, Leone

AU - Sandra, Mastroianno

AU - Stefano, Castellana

AU - Pietro, Palumbo

AU - Crociani, Paola

AU - Aldo, Russo

AU - Giuseppe, Di Stolfo

AU - Massimo, Carella

PY - 2019/5/1

Y1 - 2019/5/1

N2 - 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.

AB - 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.

KW - Emery-Dreifuss muscular dystrophy type 4

KW - hypertrophic cardiomyopathy

KW - SYNE1 mutation

UR - http://www.scopus.com/inward/record.url?scp=85065471868&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85065471868&partnerID=8YFLogxK

U2 - 10.1002/ccr3.2140

DO - 10.1002/ccr3.2140

M3 - Article

AN - SCOPUS:85065471868

SN - 2050-0904

VL - 7

SP - 1078

EP - 1082

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 5

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this