Results 21 to 30 of about 7,553,951 (168)
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. [PDF]
Int J Mol Sci, 2023 X-linked centronuclear myopathy is caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a case
Chausova P +8 more
europepmc +2 more sources
X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation
Journal of Child Neurology, 2007 Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency.
Hortobagyi, T +8 more
openaire +4 more sources
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 +2 more sources
A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female. [PDF]
Mol Genet Genomic MedA 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Chen L, Bao Y, Liu G.
europepmc +2 more sources
A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels. [PDF]
Neuromuscul Disord, 2020 The purpose of this study was to report the findings of clinical and genetic evaluation of a 3-month old male Boykin spaniel (the proband) that presented with progressive weakness.
Olby NJ +8 more
europepmc +4 more sources
X-linked myotubular myopathy [PDF]
Neuromuscular Disorders, 2021 X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2. XLMTM is clinically characterized by profound muscle weakness and associated with multiple disabilities ...
Michael W. Lawlor, James J. Dowling
openaire +2 more sources
The role of microRNAs in X-linked myotubular myopathy [PDF]
, 2009 Resumo alargado em português disponível no ...
Fontes, Mariana Miranda
core +3 more sources
Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]
Annals of Child Neurology, 2022 Purpose X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired ...
Hyewon Woo +10 more
doaj +1 more source
Biomolecules, 2023 Myo-inositol belongs to one of the sugar alcohol groups known as cyclitols. Phosphatidylinositols are one of the derivatives of Myo-inositol, and constitute important mediators in many intracellular processes such as cell growth, cell differentiation ...
Maria Derkaczew +5 more
doaj +1 more source
Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance. [PDF]
J Neuromuscul Dis, 2021 peer reviewedX-linked myotubular myopathy (XLMTM) is a life-threatening, congenital myopathy characterized by extreme hypotonia, weakness, delayed motor milestones, and respiratory failure, often resulting in pediatric mortality. This study evaluated the
Duong T +16 more
europepmc +2 more sources