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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Detalles Bibliográficos
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

Internet

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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