Results 61 to 70 of about 658 (148)

Pathogenic mechanisms in centronuclear myopathies

Frontiers in Aging Neuroscience, 2014
Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and abundant central nuclei as the most prominent histopathological feature.
Heinz eJungbluth, Mathias eGautel
doaj   +1 more source

Optimization strategies and advances in the research and development of AAV‐based gene therapy to deliver large transgenes

Clinical and Translational Medicine, Volume 14, Issue 3, March 2024.
AAV‐based gene therapy are on increasing demand to cover the needs in the patient communities with inherited genetic disorders. Single AAV vectors delivering functional gene copy are the most popular approach in RnD pipeline. Multiple split vectors, inteins and trans‐splicing strategy so far underperform monovector AAV‐delivery.
Valeria V. Kolesnik, Ruslan F. Nurtdinov, Ezekiel Sola Oloruntimehin, Alexander V. Karabelsky, Alexander S. Malogolovkin   +4 more
wiley   +1 more source

Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review

Birth Defects Research, Volume 116, Issue 1, January 2024.
Abstract Background Congenital hydrocephalus (CH) is a life‐threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often ...
Caroline Aragón, D'aviyan Robinson, Megan Kocher, Katie Barrick, Lihsia Chen, Heather Zierhut   +5 more
wiley   +1 more source

genes / 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

, 2023
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the MTM1 gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype and respiratory
Ficek, Andrej, Kušíková, Katarína, Weis, Denisa   +2 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  

X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation [PDF]

, 2011
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory ...
이진성, Min Soo Park, 박민수, 남궁란, 이철, Kook In Park, 김세훈, Jin Sung Lee, 박국인, Chul Lee, Ji Hyun Jeon, Se Hoon Kim, Ran Namgung   +12 more
core   +1 more source

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

, 2013
International audienceNo effective treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle disease caused by deficiency of the lipid phosphatase, myotubularin.
Jeffrey J. Widrick, Childers, M. K., Viola, M. G., Alan H. Beggs, O'Callaghan, M., Lawlor, M. W., Marissa G. Viola, Cynthia P. Hsu, Pierson, C. R., Meng, H., Beggs, A. H., Anna Buj-Bello, Dustin Armstrong, Hui Meng, Hsu, C. P., Michael O'Callaghan, Widrick, J. J., Robert W. Grange, Buj-Bello, A., Michael W. Lawlor, Christopher R. Pierson, Armstrong, D., Martin K. Childers, Grange, R. W.   +23 more
core   +1 more source

PMS13 Hospital Costs for Xlmtm Patients - a German Perspective [PDF]

Value in Health, 2020
D. Schmitt, J. Hathway, I. Jensen, T. Slocomb   +3 more
openaire   +1 more source

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

, 2019
X-linked myotubular myopathy (XLMTM) is a rare hereditary disorder of the skeletal muscle. Symptoms include impaired respiration and muscular hypotonia, usually present at birth and leading to death during infancy or early childhood.1 Pneumothorax ...
Carstens, Per-Ole, Obermaier, Carolin D., Schregel, Katharina, Wrede, Arne, Schmidt, Jens, Zechel, Sabrina, Pauli, Silke, Schwaibold, Eva Maria Christina   +7 more
core   +1 more source

PRO17 ECONOMIC BURDEN OF X-LINKED MYOTUBULAR MYOPATHY (XLMTM) BY VENTILATION STATUS [PDF]

Value in Health, 2020
B. Healey, N. Sacks, P.L. Cyr, T. Slocomb, E.S. James, A.H. Beggs, R.J. Graham   +6 more
openaire   +1 more source