نتایج جستجو برای: dreifuss

تعداد نتایج: 967  

Journal: :The application of clinical genetics 2016
De-Ann M Pillers Nicholas H Von Bergen

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is...

Journal: :British journal of anaesthesia 2011
J Lerman

Children with neuromuscular diseases present a wide range of clinical manifestations and clinical implications for the anaesthesiologist. Neuromuscular diseases in children affect muscle strength by either directly weakening the muscle fibrils or indirectly by a degenerative nerve supply and weak neuromuscular junction. Of the more than 200 neuromuscular disorders known, the vast majority are g...

Journal: :The New England journal of medicine 1999
D Fatkin C MacRae T Sasaki M R Wolff M Porcu M Frenneaux J Atherton H J Vidaillet S Spudich U De Girolami J G Seidman C Seidman F Muntoni G Müehle W Johnson B McDonough

BACKGROUND Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the L...

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