QR kód

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...

Celý popis

Uloženo v:
Hlavní autoři: Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI AG 2024-03-01
Edice:Muscles
Témata:
emerin
lamin A/C
laminopathies
LINC complex
myalgia
nesprin
On-line přístup:https://www.mdpi.com/2813-0413/3/1/10
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Podobné jednotky