A case of Emery-Dreifuss muscular dystrophy with slight joint contracture
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چکیده
منابع مشابه
[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 کاملEmery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
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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...
متن کاملCardiac involvement in Emery Dreifuss muscular dystrophy: a case series.
Three patients with Emery Dreifuss muscular dystrophy are reported. Emery Dreifuss muscular dystrophy is an X linked muscular dystrophy, in which locomotor involvement is characteristically mild and slowly progressive. The effect on the heart becomes apparent in the teenage years and is characterised by cardiac conduction defects and infiltration of the myocardium by fibrous and adipose tissue....
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2020
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.60.cn-001431