Results 41 to 50 of about 1,438 (185)
Indian Journal of Rheumatology, 2021 Proximal muscle weakness in children, as well as adults, can be the presenting feature of a wide range of diseases including but not limited to the idiopathic inflammatory myopathies, muscle dystrophies, metabolic, endocrine, and drug-induced myopathies.
Sujata Ganguly +3 more
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В6.А-DYSFPRMD/GENEJ MICE AS A GENETIC MODEL OF DYSFERLINOPATHY
Фармация и фармакология (Пятигорск), 2022 The aim of the work was behavioral and pathomorphological phenotyping of the mice knockout for the DYSF gene, which plays an important role in the development and progression of dysferlinopathy.Materials and methods.
M. V. Korokin +15 more
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Molecular Genetics & Genomic Medicine, 2023 Background Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein. Methods We performed exome sequencing and subsequent trio‐based
Huan Li, Liang Wang, Cheng Zhang
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Clinical Heterogeneity in Dysferlinopathy.
Internal Medicine, 2002 To clarify the clinical heterogeneity and genotype-phenotype correlation in dysferlinopathy.We evaluated clinical parameters of 74 dysferlinopathy patients with known dysferlin gene mutations who were previously reported in the literature.The age at onset varied from 12 to 59 years (mean 21.7 years).
UEYAMA, Hidetsugu +5 more
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Exon Skipping in a Dysf-Missense Mutant Mouse Model
Molecular Therapy: Nucleic Acids, 2018 Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
Jakub Malcher +10 more
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Functions of Vertebrate Ferlins
Cells, 2020 Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
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Frontiers in Neurology, 2023 We report the case of a 31-year-old Chinese woman with a chief complaint of weakness in the lower limbs, which was diagnosed as limb-girdle muscular dystrophy 2B (LGMD2B) with compound heterozygous mutations of the DYSF gene.
Xiaojie Cao +6 more
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Thrombospondin-1 and disease progression in dysferlinopathy [PDF]
Human Molecular Genetics, 2017 The purpose of this study was to determine whether thrombospondin (TSP)-1 promotes macrophage activity and disease progression in dysferlinopathy. First, we found that levels of TSP-1 are elevated in blood of non-ambulant dysferlinopathy patients compared with ambulant patients and healthy controls, supporting the idea that TSP-1 levels are correlated ...
Norifumi Urao +5 more
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Deep phenotyping of an international series of patients with late‐onset dysferlinopathy
, 2021 International audienceBackground: To describe the clinical, pathological, and molecular characteristics of late-onset (LO) dysferlinopathy patients.Methods: Retrospective series of patients with LO dysferlinopathy, defined by an age at onset of symptoms ≥
Bedat-Millet, Anne-Laure +53 more
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Case Reports in Neurology, 2019 Glucocorticoids are candidates for the pharmacological treatment of dysferlinopathy. Deflazacort, however, showed a worse effect on muscle strength than placebo.
Keiichi Takahashi
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