Results 81 to 90 of about 7,553,951 (168)

X-linked recessive myotubular myopathy proven by muscle biopsy

, 2009
[[abstract]]We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress.
Chang-Hai Tsai;Wei-Shih Huang;Fuu-Jen Tsai;Cheng-Chun Lee;Chen SS
core  

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

, 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.
Lionello, Valentina, Koebel, Pascale, Pascale Koebel, Hichem Tasfaout, Belinda S. Cowling, Cowling, Belinda, Messaddeq, Nadia, Bitz, Déborah, Valentina M. Lionello, Deborah Bitz, Laporte, Jocelyn, Kretz, Christine, Christine Kretz, Nadia Messaddeq, Jocelyn Laporte, Tasfaout, Hichem   +15 more
core   +1 more source

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci

, 1990
We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM).
Moser, H., Cole, G., Williams, H., Clarke, Angus John, Gerber, Annelies, Meier, C., Thomas, Nicholas Stuart Tudor, Roberts, K., Liechti-Gallati, S., Braga, S.   +9 more
core   +1 more source

Understanding the Disease Pathogenesis of X-linked Myotubular Myopathy [PDF]

, 2020
X-linked myotubular myopathy (XLMTM) is a fatal condition caused by mutations in myotubularin 1 (MTM1), which encodes a lipid phosphatase. Despite our increased understanding of XLMTM pathology, how MTM1 functions in skeletal muscle is unknown.
Sarikaya, Ege
core  

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes

Frontiers in Medicine
BackgroundCongenital myopathies (CMs) are a heterogeneous group of rare or ultra-rare inherited muscular disorders in which cognitive, neuropsychological and psychosocial outcomes remain poorly characterized.ObjectiveTo synthesize current evidence on ...
Sergio Rinella, Gennaro Anastasio, Gennaro Anastasio, Annamaria Sapuppo, Manuela Lo Bianco, Roberta Leonardi, Roberta Leonardi, Piero Pavone, Martino Ruggieri, Agata Polizzi   +9 more
doaj   +1 more source

Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy

Muscles
Centronuclear myopathy (CNM) is a genetically heterogenous congenital myopathy traditionally classified as a membrane remodeling disorder. Emerging evidence reveals that centronuclear myopathy mutations converge upon common cellular dysfunction extending
Bana Abolibdeh, Charles H. Williams
doaj   +1 more source

Tamoxifen Therapy in a Murine Model of Myotubular Myopathy [PDF]

, 2018
X-linked myotubular myopathy (XLMTM), also known as myotubular myopathy (MTM), is a fatal pediatric congenital myopathy caused by loss-of-function mutations in MTM1 that is without existing therapy.
Maani, Nika
core   +1 more source

Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.

, 2015
International audienceLoss-of-function mutations in the myotubularin (MTM1) gene cause X-linked myotubular myopathy (XLMTM), a fatal, inherited pediatric disease that affects the entire skeletal musculature.
Kelly, Valerie, Grange, Robert, Beggs, Alan, H., Czerniecki, Stefan, Beggs, Alan,, Goddard, Melissa, Childers, Martin, K., Lawlor, Michael, Snyder, Jessica, Smith, Barbara, Mack, David, Childers, Martin,   +11 more
core   +1 more source

Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. [PDF]

Genes (Basel), 2023
Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S, Weis D.   +11 more
europepmc   +1 more source

Arrhythmias in patients with X-linked myotubular myopathy. [PDF]

Rev Neurol, 2023
Pons-Espinal M, Clotet-Caba J, Cesar-Díaz S, Yubero-Siles D.   +3 more
europepmc   +1 more source