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Article

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.

Acta neuropathologica communications - 19 Oct 2020

Ross Jacob A, Tasfaout Hichem, Levy Yotam, Morgan Jennifer, Cowling Belinda S, Laporte Jocelyn, Zanoteli Edmar, Romero Norma B, Lowe Dawn A, Jungbluth Heinz, Lawlor Michael W, Mack David L, Ochala Julien

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a life-threatening skeletal muscle disease caused by mutations in the MTM1 gene. XLMTM fibres display a population of nuclei mispositioned in the centre. In the present study, we aimed to explore whether positioning and overall distribution of nuclei affects cellular organization and contractile function, thereby contributing to muscle weakness in this disease. We also...

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Identifiers

PMID: 33076971
DOI: 10.1186/s40478-020-01048-8
PMCID: PMC7574461

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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