Advances in muscle imaging for Emery-Dreifuss muscular dystrophy

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منابع مشابه

Advances in muscle imaging for Emery-Dreifuss muscular dystrophy

Laminopathies are a heterogeneous group of disorders related to alterations on genes coding for proteins of the nuclear envelope. Among these clinical entities, there are several diseases affecting mainly the cardiac and skeletal muscles. These disorders include forms with a selective cardiac compromise and muscular dystrophies (autosomal and X-linked forms of Emery-Dreifuss muscular dystrophy,...

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[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...

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Muscle enzymes and isoenzymes in Emery-Dreifuss muscular dystrophy.

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked muscular dystrophy. Creatine kinase (CK) activity usually is increased in serum of affected males, but results for aldolase and lactate dehydrogenase (LD) in serum have been inconsistent, as have those for CK in carrier females. There have been few studies of CK-MB or LD isoenzyme-1 (LD-1) in EDMD. We measured CK, CK-MB, LD, LD-1, and ...

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[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 (...

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Emery-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...

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ژورنال

عنوان ژورنال: Orphanet Journal of Rare Diseases

سال: 2015

ISSN: 1750-1172

DOI: 10.1186/1750-1172-10-s2-o26