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Keywords: Myotubular myopathy
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Journal Articles
Dis Model Mech (2022) 15 (7): dmm049284.
Published: 25 July 2022
... longitudinal–survival modeling of the progressive phenotype observed in Mtm1 −/y mice, a reliable model for myotubular myopathy. Analysis of historical data was used to generate a model for phenotype progression, which was then confirmed with phenotypic data from a new colony of mice derived via in vitro...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2022) 15 (7): dmm049342.
Published: 25 July 2022
...Ege Sarikaya; Nesrin Sabha; Jonathan Volpatti; Emanuela Pannia; Nika Maani; Hernan D. Gonorazky; Alper Celik; Yijng Liang; Paula Onofre-Oliveira; James J. Dowling ABSTRACT X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2020) 13 (11): dmm044354.
Published: 24 November 2020
... attributed. Summary: The BIN1 gene, mutated in centronuclear myopathies, expresses ubiquitous and muscle-specific isoforms. It is shown here that ubiquitous isoforms are necessary for muscle development, whereas muscle-specific isoforms fine-tune muscle regeneration. Myotubular myopathy...
Includes: Supplementary data