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<i>CCDC78</i>: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy

<i>CCDC78</i> was identified as a novel candidate gene for autosomal dominant centronuclear myopathy-4 (CNM4) approximately ten years ago. However, to date, only one family has been described, and the function of CCDC78 remains unclear. Here, we analyze for the first time a family harboring a <i>CCD...

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Principais autores: Diego Lopergolo, Gian Nicola Gallus, Giuseppe Pieraccini, Francesca Boscaro, Gianna Berti, Giovanni Serni, Nila Volpi, Patrizia Formichi, Silvia Bianchi, Denise Cassandrini, Vincenzo Sorrentino, Daniela Rossi, Filippo Maria Santorelli, Nicola De Stefano, Alessandro Malandrini
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2024-09-01
Serier:Cells
Fag:
CCDC78
sarcoplasmic reticulum
myopathy
centronuclear myopathy-4
Online adgang:https://www.mdpi.com/2073-4409/13/17/1504
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