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Article

CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

Cells - 8 Sept 2024

Lopergolo Diego, Gallus Gian Nicola, Pieraccini Giuseppe, Boscaro Francesca, Berti Gianna, Serni Giovanni, Volpi Nila, Formichi Patrizia, Bianchi Silvia, Cassandrini Denise, Sorrentino Vincenzo, Rossi Daniela, Santorelli Filippo Maria, De Stefano Nicola, Malandrini Alessandro

Abstract excerpt

CCDC78 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 CCDC78 nonsense mutation to better understand the role of CCDC78 in muscle. METHODS: We conducted a comprehensive...

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Identifiers

PMID: 39273074
DOI: 10.3390/cells13171504
PMCID: PMC11394131

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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