Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5399" target="_blank" >RIV/00064203:_____/09:5399 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/09:5399

Result on the web

—

DOI - Digital Object Identifier

—

Result language

angličtina

Original language name

Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene

Original language description

Described here is the phenotypical expression of a novel LMNA mutation c.1157 G>T in a Czech patient with an early-onset form of Emery-Dreifuss muscular dystrophy. The mutation predicts aberrant splicing. Now 21 years old, the patient has had slowly progressing muscle dystrophy since the age of one and early contractures of elbows. He is the only family member affected. Even though the dystrophy typically affects the heart as well, in the present case these signs are not yet expressed. (C) 2009 by Elsevier Inc. All rights reserved.

Czech name

—

Czech description

—

Type

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

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

—

Project

<a href="/en/project/NR8330" target="_blank" >NR8330: Lamin A/C gene (LMNA) analysis in patients and families with autosomal recessive, axonal type of inherited neuropathy Charcot-Marie-Tooth (AR CMT2).</a><br>

Continuities

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

Publication year

2009

Confidentiality

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

Name of the periodical

Pediatric Neurology

ISSN

0887-8994

e-ISSN

—

Volume of the periodical

41

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

4

Pages from-to

—

UT code for WoS article

000268210200010

EID of the result in the Scopus database

—