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You searched for subject:(Myotonia atrophica ). Showing records 1 – 3 of 3 total matches.

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University of South Australia

1. Baraceros, Maria Fe B. Screening for mutations in myotonic disease.

Degree: MAppSc, 1996, University of South Australia

Subjects/Keywords: Human chromosome abnormalities; Myotonia atrophica.; Myotonia congenita.

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Baraceros, M. F. B. (1996). Screening for mutations in myotonic disease. (Thesis). University of South Australia. Retrieved from http://arrow.unisa.edu.au:8081/1959.8/84489 ; http://arrow.unisa.edu.au/vital/access/manager/Repository/unisa:43117

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Baraceros, Maria Fe B. “Screening for mutations in myotonic disease.” 1996. Thesis, University of South Australia. Accessed December 11, 2019. http://arrow.unisa.edu.au:8081/1959.8/84489 ; http://arrow.unisa.edu.au/vital/access/manager/Repository/unisa:43117.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Baraceros, Maria Fe B. “Screening for mutations in myotonic disease.” 1996. Web. 11 Dec 2019.

Vancouver:

Baraceros MFB. Screening for mutations in myotonic disease. [Internet] [Thesis]. University of South Australia; 1996. [cited 2019 Dec 11]. Available from: http://arrow.unisa.edu.au:8081/1959.8/84489 ; http://arrow.unisa.edu.au/vital/access/manager/Repository/unisa:43117.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Baraceros MFB. Screening for mutations in myotonic disease. [Thesis]. University of South Australia; 1996. Available from: http://arrow.unisa.edu.au:8081/1959.8/84489 ; http://arrow.unisa.edu.au/vital/access/manager/Repository/unisa:43117

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


University of KwaZulu-Natal

2. [No author]. Myotonic dystrophy : clinical and molecular spectrum in KwaZulu-Natal.

Degree: Neurology, 2006, University of KwaZulu-Natal

Myotonic dystrophy is the commonest form of adult muscular dystrophy. Myotonic dystrophy 1 and 2 (DM 1 and DM 2) are autosomal dominant inherited disorders with unusual multisystem clinical features characterized by myotonia, progressive muscle weakness and wasting, cataracts, hypogonadism, frontal balding, cardiac conduction defects and diabetes. Severity varies from asymptomatic to severely affected phenotypes. DM1 presents with predominantly distal weakness whereas DM2 have predominantly proximal weakness.98% of patients identified worldwide present with DM1. DM 1 is caused by the expansion of an unstable CTG trinucleotide repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene on chromosome 19ql3.3. DM 2 is linked to the long arm of chromosome 3q21. It is caused by a tranucleotide, CCTG expansion in intron 1 of the zinc finger protein 9(ZNF9) gene that interferes with processing of a variety of RNAs. All DM mutations can be detected using a combination of the Southern Blot and Polymerase Chain reaction (PCR) techniques. Aim: This study aims to characterize the clinical spectrum and molecular features of myotonic dystrophy patients in KwaZulu - Natal between 1989 and 2005. Methodology: Patients included in this study were obtained from the database of patients diagnosed with Myotonic Dystrophy at the Department of Neurology in KwaZulu-Natal from 1989 to 2005. Patients were subjected to clinical, radiological and neurophysiological assessment. Molecular testing was performed using PCR and Southern blot. Results: Thirty-seven patients with Myotonic Dystrophy were identified. Twenty patients consented and were included into the study. Eighty-five percent of patients were of Indian descent and the remaining fifteen percent were White. No African patients were identified. Sixty-five percent were male and thirty-five percent female. Myotonia was clinically present in all patients. Ninety-five percent of patients presented with predominantly distal weakness of which 40% demonstrated mild weakness, 35% moderate weakness and 25 % severe weakness. No patients were identified with predominantly proximal wasting or weakness. Southern blotting demonstrated expanded CTG repeats (DM1) in all 20 samples analysed. The PCR analysis was unable to demonstrate expanded alleles. Conclusion: This study identified patients presenting with Myotonic dystrophy to the Department of Neurology in KwaZulu-Natal and demonstrated that Myotonic Dystrophy Type 1 remains the commonest clinical and molecular presentation. In addition it substantiated previous research findings wherein no South African of African descent was found to be affected by the disease. There have been no reported cases of Myotonic Dystrophy in African Black patients presenting to the Department of Neurology in Durban, no African Black patients have been diagnosed with Myotonic Dystrophy over the past 20 years. However ,the predominance of Indians in this study is more likely a reflection of referral bias than differing incidence amongst sections of… Advisors/Committee Members: Bill, Pierre L. A (advisor).

Subjects/Keywords: Myotonia atrophica.; Myotonia atrophica – Molecular aspects.; Muscular dystrophy.; Neuromuscular diseases.; Neurology.

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

author], [. (2006). Myotonic dystrophy : clinical and molecular spectrum in KwaZulu-Natal. (Thesis). University of KwaZulu-Natal. Retrieved from http://hdl.handle.net/10413/2789

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

author], [No. “Myotonic dystrophy : clinical and molecular spectrum in KwaZulu-Natal. ” 2006. Thesis, University of KwaZulu-Natal. Accessed December 11, 2019. http://hdl.handle.net/10413/2789.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

author], [No. “Myotonic dystrophy : clinical and molecular spectrum in KwaZulu-Natal. ” 2006. Web. 11 Dec 2019.

Vancouver:

author] [. Myotonic dystrophy : clinical and molecular spectrum in KwaZulu-Natal. [Internet] [Thesis]. University of KwaZulu-Natal; 2006. [cited 2019 Dec 11]. Available from: http://hdl.handle.net/10413/2789.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

author] [. Myotonic dystrophy : clinical and molecular spectrum in KwaZulu-Natal. [Thesis]. University of KwaZulu-Natal; 2006. Available from: http://hdl.handle.net/10413/2789

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


University of Florida

3. de Paz, Alexandra. Studying the Role of Mbnl3 in Myoblast Proliferation: Implications for DM1 and CDM Pathogenesis.

Degree: 2011, University of Florida

Myotonic Dystrophy Type 1 (DM1) is an RNA-mediated disease caused by microsatellite expansions that are transcribed into toxic RNAs that disrupt the activity of splicing factors, including the MBNL proteins. Although this model for DM1 pathogenesis is supported by studies on Mbnl1 knockout mice, loss of this protein alone is unsuccessful in recapitulating important DM1 symptoms such as adult muscle wasting and neonatal muscle weakness. Mbnl3, a minimally studied MBNL family member, has recently been implicated as a key player in mediating symptoms of this missing phenotype, which are closely associated with the congenital form of the disease, CDM. In this study, the role of Mbnl3 as a potential regulator of cell proliferation in muscle is explored through in vitro experiments. To study the effect of Mbnl3 knockdown on myoblast proliferation, siRNA strategy was employed in C2C12 cells and two types of cell viability assays were used to screen for proliferation defects. Overall, a significant decrease in cell proliferation was observed in C2C12 cells where Mbnl3 was knocked down, leading to several theorized mechanisms to explain this occurrence. Additional studies are currently underway to elucidate the precise role of Mbnl3 in DM1 and CDM pathogenesis. ( en )

Subjects/Keywords: Cell growth; Diseases; Family members; Knockout mice; Microsatellites; Muscle weakness; Myotonic dystrophy; Pathogenesis; Splicing; Symptomatology; Muscles; Myotonia atrophica; Proteins; RNA

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

de Paz, A. (2011). Studying the Role of Mbnl3 in Myoblast Proliferation: Implications for DM1 and CDM Pathogenesis. (Thesis). University of Florida. Retrieved from http://ufdc.ufl.edu/AA00059444

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

de Paz, Alexandra. “Studying the Role of Mbnl3 in Myoblast Proliferation: Implications for DM1 and CDM Pathogenesis.” 2011. Thesis, University of Florida. Accessed December 11, 2019. http://ufdc.ufl.edu/AA00059444.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

de Paz, Alexandra. “Studying the Role of Mbnl3 in Myoblast Proliferation: Implications for DM1 and CDM Pathogenesis.” 2011. Web. 11 Dec 2019.

Vancouver:

de Paz A. Studying the Role of Mbnl3 in Myoblast Proliferation: Implications for DM1 and CDM Pathogenesis. [Internet] [Thesis]. University of Florida; 2011. [cited 2019 Dec 11]. Available from: http://ufdc.ufl.edu/AA00059444.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

de Paz A. Studying the Role of Mbnl3 in Myoblast Proliferation: Implications for DM1 and CDM Pathogenesis. [Thesis]. University of Florida; 2011. Available from: http://ufdc.ufl.edu/AA00059444

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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