emery-dreifuss muscular dystrophy: a report of a large family with 11 affected individuals
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چکیده
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منابع مشابه
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
No abstract is needed for letter to the editor
متن کاملEmery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
1. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 2. Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran. 3. Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran. 4. Electrophysiol...
متن کامل[Emery-Dreifuss muscular dystrophy].
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder characterized by the triad of progressive weakness in humero-peroneal muscles, early onset contractures and cardiomyopathy with conduction block that shows a high risk of sudden death. In 1994, the gene responsible for X-linked EDMD has been identified to Xq28 (designated as STA), that encodes a serine-rich protein of 25...
متن کامل[Emery-Dreifuss muscular dystrophy: case report].
Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a familial disease with X-Linked recessive transmission, caused by a mutation in a nuclear envelope protein, emerin. Clinical manifestations usually occur in adolescence and include contractures, muscle atrophy and weakness, and cardiac conduction disturbances. We describe the case of a young male, aged 16, with first-degree atrioventricular (...
متن کاملAnaesthetic management of a patient with Emery-Dreifuss muscular dystrophy.
Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy associated with cardiac implications such as cardiomyopathy and arrhythmias leading to sudden death. We describe the anesthetic management of a patient with Emery-Dreifuss muscular dystrophy who presented for orthopaedic surgery and discuss the disorder and its potential anaesthetic implications.
متن کاملMolecular signatures of Emery-Dreifuss muscular dystrophy.
Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery-Dreifuss muscular dystrophy). The molecular mechanisms underlying these disorders are poorly understood; however, recent work using animal mode...
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عنوان ژورنال:
international journal of molecular and cellular medicineجلد ۵، شماره ۳، صفحات ۱۹۶-۱۹۸
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