Results 31 to 40 of about 1,745 (185)
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features
Frontiers in Neurology, 2018 ObjectiveThe aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on ...
Zhiyv Niu +15 more
doaj +1 more source
Proteasomes in Distal Myopathy with Rimmed Vacuoles.
Internal Medicine, 1998 In a previous report we suggested that muscle fibers in distal myopathy with rimmed vacuoles (DMRV) were degraded by both lysosomal proteolysis (cathepsins) and Ca2+-dependent, nonlysosomal proteolysis (calpain). Given recent evidence of abnormal ubiquitin accumulation in rimmed vacuoles, we examined the role of the ATP-ubiquitin-dependent proteolytic ...
T, Kumamoto +6 more
openaire +3 more sources
Inclusion body myositis: therapeutic approaches. [PDF]
, 2012 The idiopathic inflammatory myopathies are a heterogeneous group of diseases that include dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and other less common myopathies.
Aggarwal, Rohit, Oddis, Chester V
core +1 more source
Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy. [PDF]
PLoS ONE, 2015 Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes.
Juan Zhao +11 more
doaj +1 more source
Clinical Case Reports, 2022 We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs.
Zhouwei Xu +4 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 Objective To report the clinical and pathological features of 4 patients with oculopharyngodistal myopathy type 1 (OPDM1) caused by CGG repeat expansion in the 5'untranslated region (5'UTR) of LRP12 gene.
YU Jia‑xi +5 more
doaj +1 more source
Distal myopathy with rimmed vacuoles and cerebellar atrophy
Pathology & Oncology Research, 2006 Distal myopathies constitute a clinically and pathologically heterogeneous group of genetically determined neuromuscular disorders, where the distal muscles of the upper or lower limbs are affected. The disease of a 41-year-old male patient started with gait disturbances, when he was 25.
Hajnalka, Merkli +3 more
openaire +2 more sources
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases. [PDF]
, 2017 This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS).
Bolitho, Samuel J +11 more
core +2 more sources
Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. [PDF]
PLoS ONE, 2012 Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans.
Mitutoshi Ito +7 more
doaj +1 more source
Therapeutic Advances in Neurological Disorders, 2010 Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is a moderately progressive hereditary muscle disorder affecting young adults.
May Christine V. Malicdan +2 more
doaj +1 more source