People with the MTM1 mutation with a manifesting phenotype of X-linked myotubular myopathy have a high disease burden


  • The prevalence of people with X-linked myotubular myopathy (XL-MTM) is underreported in literature. Myotubularin 1 (MTM1) mutation carriers with a manifesting phenotype reported more frequent symptoms and a greater disease burden than those with a non-manifesting phenotype.

Why this matters

  • Manifesting XL-MTM carriers with mild muscular symptoms may not seek medical attention and thus the prevalence may be underreported. No systemic study has explored the prevalence of manifesting XL-MTM carriers.

  • Study findings can be used to inform surveillance and improve healthcare for people carrying the MTM1 mutation. Patient recruitment for future clinical trials can also consider the different avenues used this this cross-sectional study.