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

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

Abstract 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...

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Bibliographic Details
Main Authors: Jacob A. Ross, Hichem Tasfaout, Yotam Levy, Jennifer Morgan, Belinda S. Cowling, Jocelyn Laporte, Edmar Zanoteli, Norma B. Romero, Dawn A. Lowe, Heinz Jungbluth, Michael W. Lawlor, David L. Mack, Julien Ochala
Format: Article
Language:English
Published: BMC 2020-10-01
Series:Acta Neuropathologica Communications
Subjects:
Skeletal muscle
Congenital myopathy
Myotubularin
Myonuclear domain
Myofilament
Force production
Online Access:http://link.springer.com/article/10.1186/s40478-020-01048-8

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http://link.springer.com/article/10.1186/s40478-020-01048-8

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