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

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 affe...

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Autores principales: Sandra, Mastroianno, Maria Pia, Leone, Stefano, Castellana, Pietro, Palumbo, Crociani, Paola, Aldo, Russo, Giuseppe, Di Stolfo, Massimo, Carella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509902/
https://www.ncbi.nlm.nih.gov/pubmed/31110749
http://dx.doi.org/10.1002/ccr3.2140
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author Sandra, Mastroianno
Maria Pia, Leone
Stefano, Castellana
Pietro, Palumbo
Crociani, Paola
Aldo, Russo
Giuseppe, Di Stolfo
Massimo, Carella
author_facet Sandra, Mastroianno
Maria Pia, Leone
Stefano, Castellana
Pietro, Palumbo
Crociani, Paola
Aldo, Russo
Giuseppe, Di Stolfo
Massimo, Carella
author_sort Sandra, Mastroianno
collection PubMed
description 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.
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spelling pubmed-65099022019-05-20 Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia Sandra, Mastroianno Maria Pia, Leone Stefano, Castellana Pietro, Palumbo Crociani, Paola Aldo, Russo Giuseppe, Di Stolfo Massimo, Carella Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-04-21 /pmc/articles/PMC6509902/ /pubmed/31110749 http://dx.doi.org/10.1002/ccr3.2140 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Sandra, Mastroianno
Maria Pia, Leone
Stefano, Castellana
Pietro, Palumbo
Crociani, Paola
Aldo, Russo
Giuseppe, Di Stolfo
Massimo, Carella
Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia
title Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia
title_full Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia
title_fullStr Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia
title_full_unstemmed Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia
title_short Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia
title_sort emery‐dreifuss muscular dystrophy type 4: a new syne1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509902/
https://www.ncbi.nlm.nih.gov/pubmed/31110749
http://dx.doi.org/10.1002/ccr3.2140
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