X-linked myotubular myopathy(English)

• the most severe of the congenital myopathies, representing a subset of CNM encountered in 1 in 50 000 live born males in which mutations in the MTM1 gene (encoding myotubularin) are responsible. First described as ‘myotubular myopathy’
• CNM, MTM
• Myocyte / muscle, Pathology, Congenital disorders
• https://doi.org…86456-7.01517-3