Extensive morphological and immunohistochemical characterization in myotubular myopathy
The X-linked myotubular myopathy (XLMTM) also called X-linked centronuclear myopathy is a rare congenital myopathy due to mutations in the MTM1 gene encoding myotubularin. The disease gives rise to a severe muscle weakness in males at birth. The main muscle morphological characteristics (significant...
Main Authors: | Shichiji, Minobu, Biancalana, Valérie, Fardeau, Michel, Hogrel, Jean-Yves, Osawa, Makiko, Laporte, Jocelyn, Romero, Norma Beatriz |
---|---|
Format: | Online |
Language: | English |
Published: |
Blackwell Publishing Inc
2013
|
Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869686/ |
Similar Items
-
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
by: Valérie Biancalana, et al.
Published: (2018-09-01) -
X-linked recessive myotubular myopathy with MTM1 mutations
by: Han, Young-Mi, et al.
Published: (2013) -
Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations
by: Lee, Eun Hye, et al.
Published: (2013) -
Clinical Phenotype of X‐Linked Myotubular Myopathy in Labrador Retriever Puppies
by: Snead, E.C.R., et al.
Published: (2015) -
Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies
by: Neto, Osorio Abath, et al.
Published: (2014)