Results 41 to 50 of about 658 (148)
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. [PDF]
PLoS Genetics, 2013 X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin ...
Vandana A Gupta +11 more
doaj +1 more source
X-linked recessive myotubular myopathy with mutations [PDF]
Korean Journal of Pediatrics, 2013 X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males.
Young-Mi Han +7 more
doaj +1 more source
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons [PDF]
, 2016 X-linked myotubular myopathy (XLMTM) is a devastating, rare, congenital myopathy caused by mutations in the MTM1 gene, resulting in a lack of or dysfunction of the enzyme myotubularin.
Childers, M. K. +27 more
core +1 more source
Natural history of six neonates with severe MTM1-related X-linked myotubular myopathy [PDF]
Linchuang erke zazhiObjective X-linked myotubular myopathy (XLMTM) caused by MTM1 gene variation is a rare neuromuscular disease. Currently, the systematic summary of the early natural history and diagnostic clinical characteristics of XLMTM patients in China is still ...
HU Xiangsong, LIN Yating, ZHU Tianwen
doaj +1 more source
Myotubularin-MTMR12 interactions in XLMTM.
, 2013 (A) Schematic diagram of different domains of myotubularin protein displaying representative pathogenic mutations found in XLMTM patients or an artificial inactivating mutation C375S* (GRAM, N terminal lipid or protein interacting domain; RID, putative ...
Karim Hnia (127778) +11 more
core +1 more source
Cell Transplantation, 2015 X-linked myotubular myopathy (XLMTM) is an isogenic muscle disease characterized by progressive wasting of skeletal muscle, weakness, and premature death of affected male offspring.
Hyun Ju Lim +9 more
doaj +1 more source
New insights into applications of base editor in hereditary disorders
Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
Gene therapy for genetic diseases: challenges and future directions
MedComm, Volume 6, Issue 2, February 2025.The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie +4 more
wiley +1 more source
Treating pediatric neuromuscular disorders: The future is now
American Journal of Medical Genetics Part A, Volume 176, Issue 4, Page 804-841, April 2018., 2018 Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review.
James J. Dowling +3 more
wiley +1 more source