A dog model for centronuclear myopathy carrying the most common DNM2 mutation [PDF]
Disease Models & Mechanisms, 2022 Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the myofibres, including nuclear centralization and mitochondrial mispositioning.
Johann Böhm +7 more
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A novel DNM2 variant associated with centronuclear myopathy: a case report [PDF]
Frontiers in GeneticsDNM2 encodes the dynamin-2 protein, a GTPase involved in clathrin-mediated endocytosis and other membrane trafficking pathways. The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin ...
Martina Rimoldi +12 more
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A rare case of centronuclear myopathy with DNM2 mutation: genotype–phenotype correlation [PDF]
Autopsy and Case Reports, 2017 Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant ...
Amir Ghorbani Aghbolaghi +1 more
doaj +2 more sources
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants. [PDF]
Int J Mol Sci, 2022 Centronuclear myopathy (CNM) is a congenital myopathy characterised by centralised nuclei in skeletal myofibers. T-tubules, sarcolemmal invaginations required for excitation-contraction coupling, are disorganised in the skeletal muscles of CNM patients ...
Fujise K, Noguchi S, Takeda T.
europepmc +3 more sources
Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report [PDF]
Clinical Case Reports, 2021 Next‐generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult.
Sheng Huang +4 more
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Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes [PDF]
Molecular Therapy: Nucleic Acids, 2019 Genome editing with the CRISPR/Cas9 technology has emerged recently as a potential strategy for therapy in genetic diseases. For dominant mutations linked to gain-of-function effects, allele-specific correction may be the most suitable approach.
Aymen Rabai +6 more
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DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy [PDF]
Genetics and Molecular Biology, 2015 Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild ...
Osorio Abath Neto +8 more
doaj +2 more sources
Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype [PDF]
Disease Models & Mechanisms, 2015 Centronuclear myopathy (CNM) is a congenital myopathy that is histopathologically characterized by centrally located nuclei, central aggregation of oxidative activity, and type I fiber predominance and hypotrophy. Here, we obtained commercially available
Val A. Fajardo +13 more
doaj +2 more sources
CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES [PDF]
Neuromuscular Disorders, 2021 S. Buono +8 more
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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