Results 11 to 20 of about 139 (121)
Frontiers in Genetics, 2023 NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c ...
Yuefang Liu +5 more
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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Acta Neuropathologica Communications, 2018 Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...
Tamar E. Sztal +5 more
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Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
Annals of Clinical and Translational Neurology, 2023 Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
Luke Perry +7 more
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Frontiers in Oncology, 2022 Monoclonal gammopathies of clinical significance (MGCS)-associated myopathy is a group of muscular MGCS-based rare manifestations. It mainly includes amyloid light chain (AL) amyloidosis and sporadic late-onset nemaline myopathy with monoclonal ...
Hongbin Yu +5 more
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Molecular Genetics & Genomic Medicine, 2020 Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy.
Kit San Yeung +17 more
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BMC Pediatrics, 2022 Background Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes ...
Yu Zhang +8 more
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Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report
BMC Musculoskeletal Disorders, 2019 Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies.
Matthias Türk +6 more
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Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies
Acta Neuropathologica Communications, 2023 Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy.
Stefan Nicolau +7 more
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Antioxidants, 2023 Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and it is identified by the presence of “nemaline bodies” (rods) in muscle fibers by histopathological examination.
Rocío Piñero-Pérez +12 more
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Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. [PDF]
PLoS ONE, 2015 Congenital myopathies are rare skeletal muscle diseases presenting in early age with hypotonia and weakness often linked to a genetic defect. Mutations in the gene for cofilin-2 (CFL2) have been identified in several families as a cause of congenital ...
Sarah U Morton +4 more
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