Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies.
نویسندگان
چکیده
DNA Laboratory, GSTS Pathology, Guy’s Hospital, London SE1 9RT, UK Université Montpellier1, UFR Médecine and INSERM U827, Montpellier F-34000, France Department of Human and Clinical Genetics, LUMC, 2333 AL Leiden, The Netherlands d Sezione di Genetica Medica, Dipartimento di Medicina Sperimentale e Diagnostica Università di Ferrara, Italy Karolinska Institute, Neuropediatric Unit, Stockholm 17176, Sweden Universität Würzburg, Institut für Humangenetik, Biozentrum, 97074 Wuerzburg, Germany
منابع مشابه
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophies (DMD and BMD). Approximately two-thirds of the affected patients have large deletions or duplications. Using the multiplex polymerase chain reaction and Southern blotting techniques, the detection of these larger mutations is relatively straightforward. Detection of the point mutations in the remaining one-...
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Duchenne and Becker muscular dystrophies are X-linked allelic disorders in which the association of central nervous system dysfunction, typically in the form of mental retardation, is a well recognized feature. They are both due to mutations in the dystrophin gene, whose corresponding protein products are expressed both in the muscle and central nervous system. We have observed an increased fre...
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The Becker and Duchenne Muscular Dystrophy Test provides a high quality read-out of all exons of DMD gene. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and Express service TAT 7-10 days). The Becker and Duchenne Muscular Dystrophy Test ha...
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Ribosome concentration, ribosome distribution on sucrose density gradients, and in-vitro ribosomal amino-acid incorporation (noncollagen and collagen synthesis) were studied in muscle biopsy samples obtained from 30 patients with Duchenne muscular dystrophy, seven patients with Becker muscular dystrophy, and 10 with facioscapulohumeral muscular dystrophy. Ribosome concentration was normal in Du...
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ورودعنوان ژورنال:
- Neuromuscular disorders : NMD
دوره 20 6 شماره
صفحات -
تاریخ انتشار 2010