Myopathies, Nemaline
Clinical Reasoning: A 64-year-old man with progressive paraspinal muscle weakness
... acquired myopathies, information regarding medication use, metabolic dis- turbances, critical illness, and toxic exposures is ...late-onset nemaline myopathy ...in myopathies involving the axial ...
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Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes
... Both MH and porcine stress syndrome are associated with RYR1 mutations, as are the human muscle disorders, central core disease (CCD), multiminicore disease (MmD), certain nemaline rod- associated ...
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Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
... congenital nemaline myopathy present- ing with classical features of the disease (fractures, respira- tory insufficiency and absence of spontaneous movement at birth) combined with unusual presentation (bilateral ...
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Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
... les Myopathies–Myobank and Marie Bourgeois regarding the French ...les Myopathies, the Swedish Cultural Foundation, the Finska La¨karesa¨llskapet, and the Medicin- ska understo¨dsfo¨reningen Liv och ...
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Congenital myopathies in the adult neuromuscular clinic
... We searched the medical records of the Mayo Clinic in Rochester, MN, for patients evaluated in the neurology de- partment between July 1, 2008, and June 30, 2018, and who received a diagnosis of CM in adulthood (age ≥18 ...
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Leiomodin 3 dysfunction results in thin filament disorganization and nemaline myopathy
... This work was funded by the National Health and Medical Research Council of Australia (1022707 and 1031893 to N.F. Clarke, K.N. North, and N.G. Laing; 1035828 to N.F. Clarke; 1035955 to G. Ravenscroft; 0511981 to K.G. ...
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KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
... Nemaline myopathies (NMs) encompass a set of genetically het- erogeneous diseases that are defined pathologically by the pres- ence of characteristic rod-like structures, called nemaline bodies, in ...
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Clinical Heterogeneity in Korean Patients with Nemaline Myopathy
... with a distinctive morphologic abnormality designated as myogranules or rods of thread-like fibrous material. NM shares common clinical expressions such as proximal limb weakness, slow progression, and characteristic ...
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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
... scattered nemaline bodies absence of type 1 predominance and type 2B fibres with ATPases techniques might orientate toward NEB ...congenital myopathies commonly showing type 1 predominance as a prominent ...
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Nemaline Myopathy With Dilated Cardiomyopathy in Childhood
... progressive nemaline myopathies are not necessarily benign disorders be- cause some patients show rapid pro- gression that leads to death due to aggressive involvement of cardiac ...
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Drugs in induction and treatment of idiopathic inflammatory myopathies
... inflammatory myopathies (IIM) are a rare disease; so far standardized therapy has not been adequately defined by national or international guidelines or ...Drug-induced myopathies represent a considerable ...
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Distinct interferon signatures stratify inflammatory and dysimmune myopathies
... Figure 1 Relative expression of IFNγ (A), CIITA (B), HLA- DRB (C), HLA-DMB (D), HLA-DOB (E), HLA-DPB (F), GBP2 (G) and ISG15 (H) in NAM, DM, ASM and IBM. *P<0.05; **P<0.01; ***P<0.001. ASM, anti-synthetase ...
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Genotype-phenotype correlations in recessive RYR1-related myopathies
... RyR1 is a skeletal muscle calcium release channel associ- ated with excitation-contraction coupling [1]. The RYR1 gene is composed of 106 exons and encodes 5,038 amino acids, making it one of the largest genes in the ...
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Physiological and Nutritional Aspects of Broiler Breast Myopathies.
... muscle myopathies such as wooden breast (WB) and white striping (WS) have been attributed to these larger fast growing broilers (Kuttappan et ...muscle myopathies has become a priority in the broiler ...
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Immune mechanisms in the pathogenesis of idiopathic inflammatory myopathies
... inflammatory myopathies (IIMs) are characterized by mononuclear inflammatory cell infiltrates in skeletal muscle tissue, by muscle weakness, and by muscle ...inflammatory myopathies are immune-mediated; ...
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Developments in the scientific and clinical understanding of inflammatory myopathies
... inflammatory myopathies remains obscure, some scientific endeavors during the past decade have brought us closer to understanding the pathophysiology of these ...
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Physical exercise among patients with systemic autoimmune myopathies
... Systemic autoimmune myopathies (SAMs) are a heterogeneous group of rare systemic autoimmune diseases that primarily affect skeletal muscles. Patients with SAMs show progressive skeletal muscle weakness and ...
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Neutrophil dysregulation is pathogenic in idiopathic inflammatory myopathies
... inflammatory myopathies remains poorly characterized, although recent data suggest that neutrophil numbers are associated with decreased patient survival ...
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Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene
... Background: Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is characterized by generalized skeletal muscle weakness, often from ...
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Clinical Reasoning: Subacute paresis in a 28-year-old man with HIV
... The patient had an open muscle biopsy from his left deltoid. Light microscopic examination showed mild fiber size varia- tion (figure, A) and subtle type 2 myofiber atrophy. No in- flammation or myofiber degeneration ...
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