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| X-linked recessive myotubular myopathy with |
| Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo |
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Clin Exp Pediatr. 2013;56(3):139-142. Published online March 18, 2013 DOI: https://doi.org/10.3345/kjp.2013.56.3.139 |
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Confirmation of prenatal diagnosis results of X‐linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene Human Mutation. 1998;11(1):62-68  X-linked recessive myotubular myopathy withMTM1mutations Korean Journal of Pediatrics. 2013;56(3):139 402. Gait Function in a Canine Model of X-Linked Myotubular Myopathy After Systemic Delivery of AAV8-MTM1 Molecular Therapy. 2014;22:S153 Cellular, Biochemical and Molecular Changes in Muscles from Patients with X-Linked Myotubular Myopathy due to MTM1 Mutations Biophysical Journal. 2017;112(3):161a 36. AAV-MTM1 Prolongs Survival and Rescues Severe Muscle Weakness in Mouse and Canine Models of X-Linked Myotubular Myopathy Molecular Therapy. 2012;20:S14-S15 90. Respiratory Function in a Canine Model of X-Linked Myotubular Myopathy Following Regional Limb Infusion with Recombinant AAV8-MTM1 Molecular Therapy. 2013;21:S37 33. Intravenous AAV8-MTM1 Prolongs Life and Ameliorates Severe Muscle Pathology in Mouse and Dog Models of X-Linked Myotubular Myopathy Molecular Therapy. 2013;21:S14 Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients Neuromuscular Disorders. 1999;9(1):41-49 403. Improved Respiratory Function Is Associated With Increased Survival After Systemic Delivery of AAV8-MTM1 in a Canine Model of X-Linked Myotubular Myopathy Molecular Therapy. 2014;22:S153-S154 Two Cases of X-Linked Myotubular Myopathy with NovelMTM1Mutations Journal of Clinical Neurology. 2013;9(1):57 |
