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Article

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.

Journal of neuromuscular diseases - 1 Jul 2025

Colombo S, Cowling B S, Eyler L, Nijkamp D, Freitag C, Thielemans L, Bouman K, Baets J, Vissing J, Quinlivan R, Guglieri M, Montagnese F, Schara-Schmidt U, Dhawan A, Lawlor M W, Voermans N C

Abstract excerpt

BACKGROUND: Centronuclear myopathies represent a subset of debilitating genetic disorders, for which no treatment exists. The Unite-CNM trial (NCT04033159) aimed to assess the effect of an antisense oligonucleotide to reduce DNM2 mRNA expression in X-linked myotubular myopathy (XLMTM) and autosomal dominant centronuclear myopathy (ADCNM). OBJECTIVE: The trial was discontinued due to tolerability concerns (hepatic...

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Identifiers

PMID: 40275672
DOI: 10.1177/22143602251329215
PMCID: PMC13142885

Genes

DNM2
MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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