Myotubular Myopathy and other Centronuclear Myopathies

Centronuclear myopathies are characterized by an unusual localization of nuclei at the center of muscle fibers. Myotubular myopathy is a recessive X-linked form of centronuclear myopathy. Rare and severe genetic diseases of skeletal muscle, these myopathies cause generalized hypotonia and muscle weakness from birth or the first months.

 

  • NatHis-CNM: Prospective, Longitudinal Study of the Natural History and functional status of patients with MyoTubular Myopathy and other centronuclear myopathies
  • NH-CNM-001: A prospective, longitudinal study of the natural history and functional status of patients with centronuclear myopathies

 

Acronyme

NatHis-CNM

NH-CNM-001

Principal investigator Andreea Seferian Anthony Behin
Sponsor AIM
Study status Ongoing In preparation
Recruitment status Closed In preparation
Population Child and Adult Adult
+ infos on clinicaltrials.gov