Results 121 to 130 of about 27,107 (181)

Myotubular myopathy

NO TO HATATSU, 1970
openaire   +1 more source

[A case of myotubular myopathy with mental retardation].

No to hattatsu = Brain and development, 1988
K, Shikura, Y, Hokazono, K, Yoshizawa
openaire   +2 more sources

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. [PDF]

EBioMedicine
Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S.   +38 more
europepmc   +1 more source

X-linked myotubular myopathy: A prospective international natural history study. [PDF]

Neurology, 2019
Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L.   +23 more
europepmc   +1 more source

Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Hu Y, Huang X.
europepmc   +1 more source

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice

Molecular Therapy, 2018
Myotubular myopathy, or X-linked centronuclear myopathy, is a severe muscle disorder representing a significant burden for patients and their families. It is clinically characterized by neonatal and severe muscle weakness and atrophy.
Belinda Cowling, Jocelyn Laporte, Nadia Messaddeq   +2 more
exaly   +2 more sources

X-Inactivation Patterns in Carriers of X-Linked Myotubular Myopathy

Neuromuscular Disorders, 2003
X-linked myotubular myopathy is a rare severe muscle disorder in affected male neonates. Most female carriers are free from symptoms. Skewed X inactivation has been proposed to be responsible for the affected phenotype seen in some carriers.
Heinz Jungbluth, S Gallati, C Wallgren-Pettersson   +2 more
exaly   +2 more sources

Early and Severe Presentation of X-Linked Myotubular Myopathy in a Girl With Skewed X-Inactivation

Neuromuscular Disorders, 2003
X-linked myotubular myopathy is a severe congenital myopathy in males, caused by mutations in the myotubularin (MTM1) gene on chromosome Xq28. In heterozygous carriers of MTM1 mutations, clinical symptoms are usually absent or only mild.We report a 6 ...
Heinz Jungbluth, Eugenio Mercuri, Caroline A Sewry   +2 more
exaly   +2 more sources