Results 21 to 30 of about 7,273 (190)
Neuromuscular disease: 2021 update
Free Neuropathology, 2021 This review highlights ten important advances in the neuromuscular disease field that were first reported in 2020. The overarching topics include (i) advances in understanding of fundamental neuromuscular biology; (ii) new / emerging diseases; (iii ...
Marta Margeta
doaj +1 more source
Cells, 2020 Mutations in collagen VI genes cause two major clinical myopathies, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), and the rarer myosclerosis myopathy.
Manuela Antoniel +9 more
doaj +1 more source
Dominant collagen XII mutations cause a distal myopathy
Annals of Clinical and Translational Neurology, 2019 Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1.
Payam Mohassel +21 more
doaj +1 more source
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Molecular Genetics and Metabolism Reports, 2020 Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe a 44
Claire Lefeuvre +8 more
doaj +1 more source
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy
Frontiers in Neurology, 2018 GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule +7 more
doaj +1 more source
BMC Neurology, 2019 Background Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-related MFM are heterogeneous.
Juanjuan Chen +5 more
doaj +1 more source
BMC Neurology, 2023 Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness ...
Zhiyong Chen +12 more
doaj +1 more source
Distal Myopathies and Beyond: An Updated Overview of the Welander Distal Myopathy
CellsMyopathies are a heterogeneous group of disorders that primarily affect skeletal muscles and are classified as rare diseases owing to their low incidence.
Ana García-Rubio +2 more
doaj +1 more source
Flexible intramedullary nailing for distal femoral fractures in patients with myopathies
Journal of Children's Orthopaedics, 2012 Purpose Distal femoral fractures are quite common in nonambulating patients with myopathies, as they present marked osteoporosis. The deterioration of preexisting knee flexion contracture is a known problem, as these fractures are usually angulated ...
Hanspeter Huber +5 more
doaj +1 more source
Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family
Journal of Pediatrics Review, 2020 Introduction: Laing early-onset distal myopathy is a disorder with autosomal dominant inheritance pattern caused by a mutation in the MYH7 gene that encodes the human β-myosin heavy chain.
Shabnam Ghazanfari-Sarabi +2 more
doaj