Muscle pathology
Increased plasma lipid levels exacerbate muscle pathology in the mdx mouse model of Duchenne muscular dystrophy
... of muscle damage observed in DMD patients, dis- playing only increased centralized nuclei, little fibrosis, early myofiber necrosis associated with robust regener- ation (except in the diaphragm), slight reduction ...
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GSK3β mediates muscle pathology in myotonic dystrophy
... skeletal muscle development (such as a cyclin-dependent kinase inhibitor, p21, cyclin D1, and myocyte enhancer factor 2A), the translational function of CUGBP1 is important for normal myo- genesis, especially at ...
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Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null mice
... the muscle susceptible to contraction-induced sarcolemmal injuries [4-8], whereas dysferlin deficiency results in compromised membrane repair ...skeletal muscle membrane stability mediated by the DGC and ...
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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
... involving muscle biopsies performed in 8 IPD patients at baseline and at 3 and 12 months post-ERT with Chinese hamster ovary (CHO) cell-derived rhGAA, signifi- cant variability in overall glycogen clearance was ...
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Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
... vacuolar pathology, and small myofibrillar ...vacuolar pathology dominated with rare cases of pronounced larger pleomorphic myofibrillar ...molecular muscle pathology is apparently mediated ...
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Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3
... initial muscle pathology by 2 months of age that noticeably pro- gressed by 10 months of age to include frequent, large vacuoles, rounded fibers, and internalized ...nuclei. Muscle pathology ...
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Muscle pathology in myotonic dystrophy: light and electron microscopic investigation in eighteen patients
... which muscle biopsies were taken for diagnostic purposes during the period from 1973 to 2006, before genetic testing became available at our ...2 muscle fibres, and the presence of pyknotic nuclear clumps ...
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Genetic ablation of complement C3 attenuates muscle pathology in dysferlin deficient mice
... recessive muscle-wasting disorders denoted as ...in muscle membrane repair and muscle regenera- tion, both of which require vesicle-membrane ...which muscle becomes dys- trophic in these ...
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Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI
... elderly compared to young persons). 38 An additional amount of this variation was explained by the estimated progenitor allele length (≈48%) and individual-specific residual variation in somatic instability (≈59%). This ...
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Proteasome inhibition alleviates prolonged moderate compression induced muscle pathology
... cross-sectional muscle fibres, increase in nuclei number in the interstitial space, increased proportion of interstitial space, and internali- zation of peripherally located nuclei in muscle cells (Figure 1 ...
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GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice
... striated muscle cells are particularly susceptible to rupture as they endure significant mechanical stress and strain during muscle contraction, and studies have shown that defects in membrane repair can ...
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Treatment with rGDF11 does not improve the dystrophic muscle pathology of mdx mice
... laminin. Muscle sections were fixed in 4 % PFA for 30 min, washed three times with PBS, blocked with 5 % BSA in PBS for 1 h at room temperature (RT), and then incubated with rabbit anti-laminin antibody (1:400; ...
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Rapamycin Ameliorates Dystrophic Phenotype in mdx Mouse Skeletal Muscle
... modulate muscle growth and regen- eration, we studied its effect on the pathology of dystrophic ...mdx muscle pathology and mTOR activation when administered either locally or sys- temically ...
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Neutral lipid storage disease with myopathy in China: a large multicentric cohort study
... On muscle MRI, the long head of the biceps femoris, semimembranosus and adductor magnus on thighs, the soleus and medial head of the gastrocnemius on lower legs showed the most severe fatty ...and muscle ...
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The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke Like Episodes
... vides muscle tissue samples for morphological, biochemical, and molecular ...for muscle pathology and those who were negative for muscle ...for muscle pathology. While it is ...
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Theiler's murine encephalomyelitis virus-induced cardiac and skeletal muscle disease.
... inflammatory muscle disease in CD-1 mice as well as several inbred mouse ...skeletal muscle falls to undetectable levels 3 weeks postinoculation ...of muscle pathology as long as 5 weeks ...
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Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1)
... underlying pathology, ...and muscle pathology were assessed in matched cohorts of PSSM1 homozygotes, heterozygotes or control ...2a muscle fibres in PSSM1-affected ...plasma muscle ...
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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
... skeletal muscle, and are involved in modulating ion channel function, membrane stability, calcium homeostasis and energy metabolism [6, 7, 12, 13, 17, 22, 25, ...improve muscle strength and reduce ...
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Original Article Uterine smooth muscle tumors of uncertain malignant potential (STUMP): pathology, follow-up and recurrence
... uterine muscle of uncertain malignant potential (STUMPs) indicates a group of uterine smooth muscle tumors (SMTs) that cannot be diagnosed unequivocally as benign or ...gynaecological pathology) and ...
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Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
... normal muscle strength in particu- lar of the big toe extension, and no muscular atrophy or ...had muscle weakness in neck flexors (4), finger flexors and extensors (4), finger abductors (4), shoulder ...
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