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The muscular dystrophies: distinct pathogenic mechanisms invite novel therapeutic approaches.
Curr Rheumatol Rep
June 2011
The Research Institute at Nationwide Children's Hospital, Departments of Pediatrics and Neurology, Ohio State University, 700 Children's Drive, Room WA3024, Columbus, OH 43205, USA.
Over the past decade, the enigmatic pathogenic mechanisms of the most common forms of muscular dystrophy have been defined. In this report, the molecular defects for each of these disorders are fully described, demonstrating the potential for therapeutic intervention. In facioscapulohumeral muscular dystrophy, recent findings implicate a stabilized DUX4 transcript within the contracted D4Z4 repeats, opening the door for an RNA interference treatment strategy.
View Article and Find Full Text PDF[Myotonic dystrophy].
Nihon Rinsho
March 2005
Division of Functional Genomics, Institute of Biosciences and Technology, Tottori University.
Myotonic dystrophy is a dominantly inherited disorder with multisystemic clinical features affecting skeletal muscle, the heart, the eye, the endocrine system. Two genetic loci have been identified. The mutation responsible for DM1 was identified as a CTG expansion located in 3' untranslated region of the myotonia dystrophica protein kinase gene (DMPK).
View Article and Find Full Text PDFUnexpected resistance to pancuronium in a patient with myotonic dystrophy (myotonia dystrophica).
J Anesth
December 2003
Department of Anesthesiology and Critical Care Medicine, Faculty of Medicine, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Myotonia dystrophica and spinal surgery.
Paediatr Anaesth
May 2002
Royal Manchester Children's Hospital, Pendlebury, Manchester, UK.
Two cases of patients suffering from the congenital form of myotonia dystrophica under going spinal surgery are presented. Both patients had major complications, including cardiac arrhythmias, postoperative wound infection and more minor complications, such as sedation and opioid sensitivity. However, the most notable complication resulting in long-term morbidity was the deterioration of bulbar muscular function in one of the patients.
View Article and Find Full Text PDF[Multiple pigmented basalioma of the scalp in a patient with Curschmann-Steinert myotonia dystrophica. Confirmation of a rare symptom constellation].
Hautarzt
March 2001
Abteilung für Dermatologie, Kantonsspital Aarau, CH-5001 Aarau.
A 50-year-old woman presented with myotonic dystrophy (Curschmann-Steinert disease) and multiple pigmented basal cell carcinomas of the scalp. She also had typical androgenetic alopecia seen in this disorder. In 1986 Stieler and Plewig described the first patient with myotonic dystrophy and multiple basal cell carcinomas.
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