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Quoted phrase not found in phrase index: "Abnormal muscle fiber gamma sarcoglycan"
Page 1
Physiopathology of vesico-ureteral reflux.
Arena S, Iacona R, Impellizzeri P, Russo T, Marseglia L, Gitto E, Romeo C. Arena S, et al. Ital J Pediatr. 2016 Nov 29;42(1):103. doi: 10.1186/s13052-016-0316-x. Ital J Pediatr. 2016. PMID: 27899160 Free PMC article. Review.
Vescico-Ureteral Reflux (VUR) is a common condition in childhood, caused by a congenital anomaly at the Vescico-Ureteral Junction (VUJ) level. It seems that the main cause could be an abnormal embryological development occurred during the early stage of fetal life.R …
Vescico-Ureteral Reflux (VUR) is a common condition in childhood, caused by a congenital anomaly at the Vescico-Ureteral Junction (VU …
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 …
Asymptomatic or minimally symptomatic hyperCKemia: histopathologic correlates.
Dabby R, Sadeh M, Herman O, Berger E, Watemberg N, Hayek S, Jossiphov J, Nevo Y. Dabby R, et al. Isr Med Assoc J. 2006 Feb;8(2):110-3. Isr Med Assoc J. 2006. PMID: 16544734 Free article.
Abnormal muscle biopsy findings (e.g., increased variation in fiber size, increased number of central nuclei, and occasional degenerating fibers) were detected in 22 of the 40 patients (55%). ...No abnormal findings were detected on immunohistoc …
Abnormal muscle biopsy findings (e.g., increased variation in fiber size, increased number of central nuclei, and occas …
Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients.
Calvo F, Teijeira S, Fernandez JM, Teijeiro A, Fernandez-Hojas R, Fernandez-Lopez XA, Martin E, Navarro C. Calvo F, et al. Neuromuscul Disord. 2000 Dec;10(8):560-6. doi: 10.1016/s0960-8966(00)00147-4. Neuromuscul Disord. 2000. PMID: 11053682
This study confirms the significant electrocardiographic abnormalities described in previous studies. Furthermore, measurement of myocardial velocity at different levels demonstrated an abnormal relaxation pattern in the tricuspid annulus in four of the oldest patie …
This study confirms the significant electrocardiographic abnormalities described in previous studies. Furthermore, measurement of myo …
Spectrum of congenital myopathies: a single centre experience.
Uppin MS, Meena AK, Sundaram C. Uppin MS, et al. Neurol India. 2013 May-Jun;61(3):254-9. doi: 10.4103/0028-3886.115064. Neurol India. 2013. PMID: 23860144 Free article.
Muscle biopsy is characterized by structural abnormality that is diagnostic. ...Immunohistochemistry was performed with dystrophin, sarcoglycans and desmin wherever necessary. RESULTS: There were 50 patients with CMs: Centronuclear myopathy (23), myotubular m …
Muscle biopsy is characterized by structural abnormality that is diagnostic. ...Immunohistochemistry was performed with dystro …