An Intronic Heterozygous <i>SYNE2</i> Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

<i>SYNE2</i> mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome sequencing revealed a novel heterozygo...

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Detalhes bibliográficos

Principais autores:	Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2024-03-01
coleção:	Muscles
Assuntos:	emerin lamin A/C laminopathies LINC complex myalgia nesprin
Acesso em linha:	https://www.mdpi.com/2813-0413/3/1/10
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