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

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 c...

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Detaylı Bibliyografya
Yayımlandı:Acta Neuropathol Commun
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2020
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7574461/
https://ncbi.nlm.nih.gov/pubmed/33076971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-01048-8
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