Emery-Dreifuss muscular dystrophy type 4: A new
Emery‐Dreifuss muscular dystrophy type 4
SYNE1 mutation
hypertrophic cardiomyopathy
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
May 2019
May 2019
Historique:
received:
07
12
2018
accepted:
20
02
2019
entrez:
22
5
2019
pubmed:
22
5
2019
medline:
22
5
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31110749
doi: 10.1002/ccr3.2140
pii: CCR32140
pmc: PMC6509902
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1078-1082Déclaration de conflit d'intérêts
None Declared.
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