메뉴 건너뛰기
Library Notice
Institutional Access
If you certify, you can access the articles for free.
Check out your institutions.
ex)Hankuk University, Nuri Motors
Log in Register Help KOR
Subject
Humanities
General Humanities History Philosophy Religious Studies Linguistics and Literature Other Humanities
Social science
General Social Science Business Management Tourism Education Military Science Library and Information Science Law Sociology Journalism and Media Studies Psychological Science Political Science and Diplomacy Geography Public Administration Economics International Trade Anthropology Other Social Science
Natural science
General Natural Science Physics Biology Life Sciences Mathematics/Statistics Astronomy Earth Science Chemistry Other Natural Science
Engineering
General Engineering Architectural Engineering Mechanical Engineering Industrial Engineering Material/Energy Engineering Electrical and Electronic Engineering Marine and Ocean Engineering Chemical Engineering Computer Science Other Engineering
Medical science
General Medical Science Nursing Science Veterinary Pharmacy Traditional Korean Medicine Basic Medicine Clinical Medicine Other Medicine
Agriculture and Fishery
General Agriculture and Fishery Agriculture Fishery Science Food Science Forestry Animal Husbandry Marine Transportation Studies Other Agriculture and Fishery
Art and Kinesiology
General Arts Design Fine Arts Cosmetology Photography Music Fashion Kinesiology Performing Media Arts Other Arts and Kinesiology
Interdisciplinary Studies
Interdisciplinary Research Science and Technology Studies Brain and Cognitive Science Technology Policy Other Interdisciplinary Studies

KOR

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
Recommendations
Search

논문 기본 정보

Type
Academic journal
Author
Journal
대한신경과학회 Journal of Clinical Neurology Journal of Clinical Neurology 제13권 제4호 KCI Accredited Journals
Published
2017.1
Pages
405 - 410 (6page)

Usage

cover
Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
Ask AI
Recommendations
Search

Abstract· Keywords

Report Errors
Background and Purpose The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. Methods We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy. Results Certain clinical features such as delayed contracture involvement and calf hypertrophy were found to contribute to a delayed diagnosis. Muscle biopsies were not informative for the diagnosis in these patients. Conclusions Genetic testing of single or multiple genes is useful for confirming a diagnosis of LMNA-associated muscular dystrophy. Even EDMD patients could experience the later involvement of contracture, so clinicians should consider early genetic testing for patients with undiagnosed muscular dystrophy or laminopathy.
#lamin A/C #limb-girdle muscular dystrophy type 1B #emery-dreifuss muscular dystrophy.

Contents

No content found

References (15)

Add References
Bonne G / 1999 / Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy / Nat Genet 21 : 285 ~ 288 google schola Bonne G / 2000 / Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene / Ann Neurol 48 : 170 google schola Bonnemann CG / 2014 / Diagnostic approach to the congenital muscular dystrophies / Neuromuscul Disord 24 : 289 ~ 311 google schola Clement EM / 2012 / Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008 / Neuromuscul Disord 22 : 522 ~ 527 google schola Dai Y / 2015 / A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing / Neuromuscul Disord 2 google schola

Recommendations

It is an article recommended by DBpia according to the article similarity. Check out the related articles!

Related Authors

Recently viewed articles

조명분야
성열문, 장우진, 윤정일The Korean Institute of Illuminating and electrical Installation Engineers2019.09
 [총론] 덕질의 시대와 아이돌-되기
박인성2018.09
 Response to Crimes of Terrorism : from the Perspective of Criminal Law and Criminal Policy
왕문화2014
 구술, 텍스트 그리고 영상 매체
KIM Mi SungAssociation D'Etudes De La Culture Francaise Et Des Arts En France2018.02

Comments(0)

0

Write first comments.