Results 121 to 130 of about 7,553,951 (168)

Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy

Human Molecular Genetics, 1997
Laporte, Jocelyn, Guiraud-Chaumeil, Christophe, Vincent, Marie-Claire, Mandel, Jean-Louis, Tanner, Stephan M., Gallati, Sabina, Wallgren-Pettersson, Carina, Dahl, Niklas, Kress, Wolfram, Bolhuis, Pieter A., Fardeau, Michel, Samson, Françoise, Bertini, Enrico   +12 more
openaire   +3 more sources

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. [PDF]

Mol Genet Genomic Med, 2019
Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G, Takahashi I, Nonaka I, Noguchi S, Nishino I.   +9 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

X-Linked Myotubular Myopathy in a Family With Three Adult Survivors

Clinical Genetics, 2003
We describe a family with an extremely mild form of X‐linked myotubular myopathy. Three affected males survived to adulthood with sufficient muscle strength to enable them to carry out normal daily activities. The mildness of the myopathy in this family is highlighted by the following: no neonatal or infant mortality resulting from the myopathy; one ...
Eric Haan
exaly   +5 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

X-Linked Myotubular and Centronuclear Myopathies. [PDF]

Journal of Neuropathology and Experimental Neurology, 2005
Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopathy. These myopathies share similar morphologic appearances with other diseases, namely the presence of hypotrophic myofibers with prominent internalized or centrally placed nuclei.
Alan H. Beggs, Christopher R Pierson
exaly   +3 more sources

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X-Linked Myotubular Myopathy and Chylothorax

Neuromuscular Disorders, 2008
X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with ...
Koenraad Smets
exaly   +3 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