Associated Papers
Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM).
Devito LG et al.
Stem Cell Research, 2023
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Bachmann C et al.
Human Molecular Genetics, 2017
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud H et al.
Cmaj : Canadian Medical Association Journal = Journal De L'association Medicale Canadienne, 2016
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Pierson CR et al.
Neuromuscular Disorders : Nmd, 2007
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE et al.
Human Mutation, 2002
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
Select a paper to view details