Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

X-linked myotubular myopathy (XLMTM) is a devastating, rare, congenital myopathy caused by mutations in the MTM1 gene, resulting in a lack of or dysfunction of the enzyme myotubularin. This leads to severe perinatal weakness and distinctive muscle pathology. It was originally thought that XLMTM was...

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Udgivet i:J Neuropathol Exp Neurol
Main Authors: Lawlor, Michael W., Beggs, Alan H., Buj-Bello, Ana, Childers, Martin K., Dowling, James J., James, Emma S., Meng, Hui, Moore, Steven A., Prasad, Suyash, Schoser, Benedikt, Sewry, Caroline A.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2016
Fag:
Review Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4765322/
https://ncbi.nlm.nih.gov/pubmed/26823526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jnen/nlv020
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