A mutation in the X-linked emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F01%3A00006363" target="_blank" >RIV/65269705:_____/01:00006363 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

A mutation in the X-linked emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy

Original language description

A screening for mutation in the X-linked Emery-Dreifuss muscular dystrophy (X-EMD) gene was performed among patients affected with severe heart rhythm defects and/or dilated cardiomyopathy. Patients were selected from the database of the Department of Cardiology of the University Hospital Brno. One patient presented a mutation in the X-EMD gene and no emerin in his skeletal muscle. The patient had a severe cardiac disease but a very mild muscle disorder that had not been diagnosed until the mutations was found. This case shows that mutations in X-EMD gene, as it was shown for autosomal-dominant EMD, can cause a predominant cardiac phenotype.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NF5919" target="_blank" >NF5919: Prevalence of Emery Dreifuss muscular dystrophy in patients with serious heart rhythm disturbances or idiopathic dilated cardiomyopathy.</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2001

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neuromuscular Disorders

ISSN

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e-ISSN

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Volume of the periodical

.

Issue of the periodical within the volume

11

Country of publishing house

US - UNITED STATES

Number of pages

3

Pages from-to

411-413

UT code for WoS article

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EID of the result in the Scopus database

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