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Quoted phrase not found in phrase index: "Abnormal muscle fiber desmin"
Page 1
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shelly S, Talha N, Pereira NL, Engel AG, Johnson JN, Selcen D. Shelly S, et al. Neurology. 2021 Sep 14;97(11):e1150-e1158. doi: 10.1212/WNL.0000000000012542. Epub 2021 Jul 27. Neurology. 2021. PMID: 34315782
Skeletal muscle biopsy from patients with missense and splice site variants (n = 12) showed abnormal fibers containing amorphous material in Gomori trichrome-stained sections. Patients with cardiac involvement had atrioventricular conduction abnormalities …
Skeletal muscle biopsy from patients with missense and splice site variants (n = 12) showed abnormal fibers containing …
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M. Kley RA, et al. Brain. 2007 Dec;130(Pt 12):3250-64. doi: 10.1093/brain/awm271. Brain. 2007. PMID: 18055494 Review.
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres. ...Patients frequently developed respirato …
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction …
A Case of Giant Mesenchymal Uterine Tumor: Lipoleiomyoma.
Bosoteanu M, Vodă RI, Orasanu CI, Aschie M, Enciu M, Baltatescu GI. Bosoteanu M, et al. Am J Case Rep. 2022 Jan 19;23:e934913. doi: 10.12659/AJCR.934913. Am J Case Rep. 2022. PMID: 35042839 Free PMC article.
BACKGROUND Uterine lipoleiomyoma is a rare benign tumor composed of varying proportions of smooth muscle fibers and mature adipocytes, without identification of hemorrhage, necrosis, or cyto-architectural atypia. ...Their treatment, when necessary, is surgical, with …
BACKGROUND Uterine lipoleiomyoma is a rare benign tumor composed of varying proportions of smooth muscle fibers and mature adi …
Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C. Fichna JP, et al. PLoS One. 2014 Dec 26;9(12):e115470. doi: 10.1371/journal.pone.0115470. eCollection 2014. PLoS One. 2014. PMID: 25541946 Free PMC article.
To test the impact of the mutations on DES expression and the intracellular distribution of desmin muscle biopsies were investigated. Elevated desmin levels as well as its atypical localization in muscle fibers were observed. Additional staining …
To test the impact of the mutations on DES expression and the intracellular distribution of desmin muscle biopsies were invest …
Histochemical and immunohistochemical characteristics of elastofibromas.
Tasli F, Vardar E, Argon A, Kabat T, Deniz S, Nart A, Kececi Y. Tasli F, et al. Pol J Pathol. 2014 Jun;65(2):120-4. doi: 10.5114/pjp.2014.43961. Pol J Pathol. 2014. PMID: 25119171 Free article.
Four cases had focal myoglobin positivity in the spindle-shaped cells between the collagen fibers. Spindle cells were positive for CD34 in 8 cases. Smooth muscle actin, desmin, type 4 collagen and laminin were negative in all cases. The elastic nature of the …
Four cases had focal myoglobin positivity in the spindle-shaped cells between the collagen fibers. Spindle cells were positive for CD …
Cardiomyopathy characterized by abnormal accumulation of desmin-type intermediate filaments in cardiac muscle fibers. A case report and review of the literature.
Tanaka M, Kawahara Y, Motomiya T, Sakamoto M, Sugiura M, Toyoda M, Kajita A, Osamura Y. Tanaka M, et al. Acta Pathol Jpn. 1989 Apr;39(4):266-73. doi: 10.1111/j.1440-1827.1989.tb01511.x. Acta Pathol Jpn. 1989. PMID: 2662705 Review.
Biopsy and autopsy materials revealed diffuse loss of myofibrils in the central zone of cardiac muscle fibers, and replacement with aniline blue-positive homogeneous material (17-35% of the area of one muscle fiber). ...At autopsy, degeneration was det …
Biopsy and autopsy materials revealed diffuse loss of myofibrils in the central zone of cardiac muscle fibers, and replacement …
Neonatal pulmonary sequestration (PS) with rhabdomyomas-like hyperplasia: A case report.
Liu XM, Yuan LM, Wu YR, Zhou CJ. Liu XM, et al. Medicine (Baltimore). 2020 May;99(20):e20052. doi: 10.1097/MD.0000000000020052. Medicine (Baltimore). 2020. PMID: 32443310 Free PMC article.
Nuclei were located at the margins of the cells. Striated muscle fibers observed as immunological markers (myogenin and desmin) of striated muscles were positively detected. ...It has a relatively good prognosis....
Nuclei were located at the margins of the cells. Striated muscle fibers observed as immunological markers (myogenin and des …
Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies.
Soubrouillard C, Pellissier JF, Lepidi H, Mancini J, Rougon G, Figarella-Branger D. Soubrouillard C, et al. J Neurol Sci. 1995 Nov;133(1-2):155-63. doi: 10.1016/0022-510x(95)00182-2. J Neurol Sci. 1995. PMID: 8583219
These findings are in favor of a denervation process occurring very early in life, probably even in utero, in type I and II SMA and leading to a severe impairment of muscle fibers maturation. In contrast, in type III SMA, the process is initiated well after birth an …
These findings are in favor of a denervation process occurring very early in life, probably even in utero, in type I and II SMA and leading …
Nemaline myopathy: clinical, histochemical and immunohistochemical features.
Youssef NC, Scola RH, Lorenzoni PJ, Werneck LC. Youssef NC, et al. Arq Neuropsiquiatr. 2009 Sep;67(3B):886-91. doi: 10.1590/s0004-282x2009000500020. Arq Neuropsiquiatr. 2009. PMID: 19838523 Free article.
Some cases have a more benign course, with skeletal abnormalities later in life. We analyzed a series of eight patients with NM obtained from a retrospective analysis of 4300 muscle biopsies. ...Histochemical analysis showed mixed rods distribution in all cas …
Some cases have a more benign course, with skeletal abnormalities later in life. We analyzed a series of eight patients with N …
Myogenin (Myf4) upregulation in trans-differentiating fibroblasts from a congenital myopathy with arrest of myogenesis and defects of myotube formation.
Weise C, Dai F, Pröls F, Ketelsen UP, Dohrmann U, Kirsch M, Brand-Saberi B. Weise C, et al. Anat Embryol (Berl). 2006 Nov;211(6):639-48. doi: 10.1007/s00429-006-0117-x. Epub 2006 Sep 15. Anat Embryol (Berl). 2006. PMID: 16977479
Polymerase chain reaction-based analysis was performed to characterize the expression patterns of the Desmin, p21, p57, and muscle regulatory factors (MRFs) MyoD, Myf4, Myf5 and Myf6 in differentiating skeletal muscle cells (SkMCs), normal human fibroblasts a …
Polymerase chain reaction-based analysis was performed to characterize the expression patterns of the Desmin, p21, p57, and muscle …