Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
نویسندگان
چکیده
منابع مشابه
FHL1 protein isoforms in Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscular disorder characterized by early joint contractures, progressive muscular wasting and weakness of scapuloperoneal distribution, and at adult age, patients develop cardiac abnormalities with a high risk of sudden death [1]. EDMD encompasses both X-linked and autosomal inheritance due to mutations in the genes encoding the nuclear e...
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 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 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 (EDMD) Panel
The EDMD Panel provides a high quality read-out of all clinically relevant genes associated with channelopathies and ARVC. 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 EDMD Panel has undergone rigor...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2009
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2009.07.015