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埃默里-德賴富斯營養不良 - 遺傳性疾病骨骼肌和心臟
定義 埃默里-德賴富斯營養不良
Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle.
更多
Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips.
less
一些常見的症狀
疲勞
限制運動
心悸
弱點
一些相關的診斷
1 - 7 of
144
診斷
大發作癲癇發作
系統性紅斑狼瘡
肢帶型肌營養不良症
定期癱瘓
尿崩症
馬凡氏綜合徵
遺傳性出血性毛細血管擴張症
更多
我有 '埃默里-德賴富斯營養不良'?
此外，下列診斷測試可能需要幫助核實診斷:
診斷測試的搜索結果 '埃默里-德賴富斯營養不良'
1 - 5 of
10
診斷測試
心電圖
Electrocardiogram
埃默里-德賴富斯營養不良 和 心電圖
胸部X光
Radiological technique to image the chest
埃默里-德賴富斯營養不良 和 胸部X光
肌肉切片
埃默里-德賴富斯營養不良 和 肌肉切片
脈搏血氧儀
Oximetry
埃默里-德賴富斯營養不良 和 脈搏血氧儀
Serum Creatine Kinase (CK)
埃默里-德賴富斯營養不良 和 Serum Creatine Kinase (CK)
Immunohistochemistry for emerin
埃默里-德賴富斯營養不良 和 Immunohistochemistry for emerin
Electromyogram (EMG)
埃默里-德賴富斯營養不良 和 Electromyogram (EMG)
神經傳導研究新生
埃默里-德賴富斯營養不良 和 神經傳導研究新生
Developmental testing
埃默里-德賴富斯營養不良 和 Developmental testing
免疫組織化學
埃默里-德賴富斯營養不良 和 免疫組織化學
欲了解更多請登錄，登錄是免費的（點擊登陸）
治療程序為 '埃默里-德賴富斯營養不良'?
管理或治療疾病應始終取決於患者的衛生保健提供者. 以下是有關治療程序或藥物 Emery-Dreifuss dystrophy:
治療程序的搜索結果 '埃默里-德賴富斯營養不良'
1 - 4 of
4
治療程序
rankings are computer generated. 請諮詢您的衛生保健提供者.
心臟起搏器
Cardiac pacemaker
埃默里-德賴富斯營養不良 和 心臟起搏器
ICD的植入
埃默里-德賴富斯營養不良 和 ICD的植入
胸部物理治療
埃默里-德賴富斯營養不良 和 胸部物理治療
呼吸道清除
埃默里-德賴富斯營養不良 和 呼吸道清除
藥品的搜索結果 '埃默里-德賴富斯營養不良'
rankings are computer generated. 請諮詢您的衛生保健提供者.
網絡搜索結果 埃默里-德賴富斯營養不良
網站（所有）
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治療
|
藥品
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測試
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研究
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飲食
結果
1 - 50
- 埃默里-德賴富斯營養不良
Emery-Dreifuss muscular dystrophy - Wikipedia, the free encyclopedia
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翻譯此頁
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... all people with Emery-Dreifuss muscular dystrophy have heart problems ... Emery AE, Dreifuss FE (1966). " Unusual type of benign x-linked muscular dystrophy" ...
http://en.wikipedia.org/wiki/Emery-Dreifuss_muscular_dystrophy
en.wikipedia.org
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summary
Emery-Dreifuss muscular dystrophy - Genetics Home Reference
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翻譯此頁
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Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles ... Most cases of Emery-Dreifuss muscular dystrophy are caused by mutations in ...
http://ghr.nlm.nih.gov/condition=emerydreifussmusculardystrophy
ghr.nlm.nih.gov
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summary
Emery-Dreifuss Muscular Dystrophy -- GeneReviews -- NCBI Bookshelf
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Autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) and XL-EDMD have ... EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3 ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=edmd
www.ncbi.nlm.nih.gov
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summary
Emery-Dreifuss muscular dystrophy - References - Genetics Home Reference
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Gene Review: Emery-Dreifuss Muscular Dystrophy. Helbling-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss muscular dystrophy. Eur J Hum Genet. ...
http://ghr.nlm.nih.gov/condition=emerydreifussmusculardystrophy/show/References
ghr.nlm.nih.gov
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summary
Emery-Dreifuss Muscular Dystrophy
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Emery-Dreifuss Muscular Dystrophy. Gisele Bonne, PhD. Institut de Myologie. INSERM U582 ... Emery-Dreifuss muscular dystrophy (EDMD) is characterized by ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Emery-Dreifuss muscular dystrophy.
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Emery-Dreifuss muscular dystrophy. Helbling-Leclerc A, Bonne G, Schwartz K. ... Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, ...
http://www.ncbi.nlm.nih.gov/pubmed/11973618
www.ncbi.nlm.nih.gov
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summary
Muscular Dystrophies: Inherited Muscular Disorders: Merck Manual ...
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翻譯此頁
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Other Forms of Muscular Dystrophy. Emery-Dreifuss dystrophy. Myotonic dystrophy ... Genes associated with Emery-Dreifuss dystrophy encode for certain nuclear ...
http://www.merck.com/mmpe/sec19/ch295/ch295b.html
www.merck.com
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summary
Emery-Dreifuss muscular dystrophy - Educational resources - Information ...
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Genetic Conditions > Emery-Dreifuss muscular dystrophy > ... New York Online Access to Health. Orphanet: Emery-Dreifuss Muscular Dystrophy ...
http://ghr.nlm.nih.gov/condition=emerydreifussmusculardystro...
ghr.nlm.nih.gov
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summary
Mutation analysis in Emery-Dreifuss muscular dystrophy.
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Emery-Dreifuss is an X-linked muscular dystrophy with humeroperoneal weakness ... Muscular Dystrophy, Emery-Dreifuss. Nuclear Proteins. Sequence Deletion/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/10428430
www.ncbi.nlm.nih.gov
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summary
Emery-Dreifuss muscular dystrophy - MedlinePlus - Health information ...
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... Conditions > Emery-Dreifuss muscular dystrophy > MedlinePlus - Health ... Genetics Home Reference condition summary on Emery-Dreifuss muscular dystrophy. ...
http://ghr.nlm.nih.gov/condition=emerydreifussmusculardystrophy/show/MedlinePlus
ghr.nlm.nih.gov
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summary
Emery-Dreifuss muscular dystrophy - Related Gene(s) - Genetics Home ...
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Genetic Conditions > Emery-Dreifuss muscular dystrophy > Related Gene(s) EMD: emerin ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=emerydreifussmusculardystro...
ghr.nlm.nih.gov
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summary
A linkage study of Emery-Dreifuss muscular dystrophy.
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1: Hum Genet. 1986 Dec;74(4):409-16. A linkage study of Emery-Dreifuss muscular dystrophy. ... chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD) ...
http://www.ncbi.nlm.nih.gov/pubmed/3466853
www.ncbi.nlm.nih.gov
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summary
Muscular Dystrophy Types and Overview
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Get the facts about the causes and types of muscular dystrophy. ... Emery-Dreifuss. Muscular dystrophy can occur at different ages of a person's life, ranging from ...
http://www.webmd.com/parenting/understanding-muscular-dystrophy-basics
www.webmd.com
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summary
Muscular dystrophy - Wikipedia, the free encyclopedia
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7.4 Distal muscular dystrophy. 7.5 Emery-Dreifuss muscular dystrophy ... Emery-Dreifuss ? Facioscapulohumeral ? Limb-girdle muscular dystrophy ? Myotonic ...
http://en.wikipedia.org/wiki/Muscular_dystrophy
en.wikipedia.org
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summary
Emery-Dreifuss muscular dystrophy - Patient support - For patients and ...
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Genetic Conditions > Emery-Dreifuss muscular dystrophy > ... Genetics Home Reference condition summary on Emery-Dreifuss muscular dystrophy. ...
http://ghr.nlm.nih.gov/condition=emerydreifussmusculardystro...
ghr.nlm.nih.gov
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summary
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.
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Emery-Dreifuss muscular dystrophy (EMD) is characterised by (1) early ... new families with X linked Emery-Dreifuss muscular dystrophy studied with DNA ...
http://www.ncbi.nlm.nih.gov/pubmed/8445613
www.ncbi.nlm.nih.gov
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summary
Muscular Dystrophy
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Duchenne/Becker and Emery-Dreifuss are X-linked recessive. ... dystrophy, FSHD, OPMD, Distal, several forms of Limb-girdle, and Emery-Dreifuss dystrophies. ...
http://www.clevelandclinic.org/health/health-info/docs/4400/4461.asp?index=14128
www.clevelandclinic.org
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Orphanet: Emery Dreifuss muscular dystrophy
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Emery-Dreifuss muscular dystrophy. Orpha number. ORPHA261. Prevalence of ... Emery-Dreifuss muscular dystrophy (EDMD) is characterised by muscular weakness ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=261
www.orpha.net
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summary
Other Forms of Muscular Dystrophy: Muscular Dystrophies and Related ...
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Emery-Dreifuss dystrophy is transmitted in various ways. ... Myotonic dystrophy (Steinert's disease) is an autosomal dominant disorder ...
http://www.merck.com/mmhe/print/sec05/ch073/ch073c.html
www.merck.com
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summary
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant ...
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The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting ... product of the X-linked Emery-Dreifuss muscular dystrophy gene is a single ...
http://www.ncbi.nlm.nih.gov/pubmed/10393813
www.ncbi.nlm.nih.gov
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summary
Muscular dystrophy - Wikipedia, the free encyclopedia
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8.4 Distal muscular dystrophy. 8.5 Emery-Dreifuss muscular dystrophy ... Emery-Dreifuss ? Facioscapulohumeral ? Limb-girdle muscular dystrophy ? Myotonic ...
http://en.wikipedia.org/wiki/Muscle_dystrophy
en.wikipedia.org
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summary
Muscular Dystrophy - MedlinePlus Medical Encyclopedia
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... symptoms, treatment, and possible complications of muscular dystrophy, the group of disorders that involve muscle ... dystrophy. Emery-Dreifuss muscular ...
http://www.nlm.nih.gov/medlineplus/ency/article/001190.htm
www.nlm.nih.gov
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summary
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with ...
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Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. ... Emery-Dreifuss/diagnosis. Muscular Dystrophy, Emery-Dreifuss ...
http://www.ncbi.nlm.nih.gov/pubmed/10480214
www.ncbi.nlm.nih.gov
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summary
Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone ...
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Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) ... Muscular Dystrophy, Emery-Dreifuss. Nucleic Acid Hybridization. Pedigree ...
http://www.ncbi.nlm.nih.gov/pubmed/1525559
www.ncbi.nlm.nih.gov
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EMERY-DREIFUSS MUSCULAR DYSTROPHY - Pedbase.org
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Pediatric Database - EMERY-DREIFUSS MUSCULAR DYSTROPHY ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics- EMERY-DREIFUSS MUSCULAR DYSTROPHY ...
http://pedbase.org/e/emery-dreifuss-muscular-dystrophy/
pedbase.org
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Muscular Dystrophy
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Emery-Dreifuss (X linked recessive or Autosomal dominant) ... One form of Emery-Dreifuss muscular dystrophy is also X-linked recessive. Autosomal recessive: ...
http://my.clevelandclinic.org/disorders/muscular_dystrophy/h...
my.clevelandclinic.org
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summary
NIH Initiatives: National Institute of Neurological Disorders and ...
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... Find People " Groups at NINDS " Muscular Dystrophy Coordinating Commmittee " ... of Emery-Dreifuss, facioscapulohumeral, limb girdle muscular dystrophy 1B, and ...
http://www.ninds.nih.gov/find_people/groups/mdcc/ResearchIni...
www.ninds.nih.gov
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Mutations in Emery-Dreifuss muscular dystrophy and their effects on ...
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Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin ... Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been ...
http://www.ncbi.nlm.nih.gov/pubmed/9536090
www.ncbi.nlm.nih.gov
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EMD - emerin - Genetics Home Reference
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Emery-Dreifuss muscular dystrophy - caused by mutations in the EMD gene ... In rare cases, Emery-Dreifuss muscular dystrophy results from EMD mutations that ...
http://ghr.nlm.nih.gov/gene=emd
ghr.nlm.nih.gov
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summary
Muscular Dystrophy Canada - Wikipedia, the free encyclopedia
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翻譯此頁
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Muscular Dystrophy Canada (MDC) (French: Dystrophie musculaire Canada) is a ... Emery-Dreifuss ? Facioscapulohumeral ? Limb-girdle muscular dystrophy ? Myotonic ...
http://en.wikipedia.org/wiki/Muscular_Dystrophy_Canada
en.wikipedia.org
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summary
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A ...
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Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. ... Muscular Dystrophy, Emery-Dreifuss/genetics* Mutation/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/14659775
www.ncbi.nlm.nih.gov
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summary
LMNA - lamin A/C - Genetics Home Reference
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Emery-Dreifuss muscular dystrophy - caused by mutations in the LMNA gene ... with those of the autosomal dominant form of Emery-Dreifuss muscular dystrophy. ...
http://ghr.nlm.nih.gov/gene=lmna
ghr.nlm.nih.gov
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summary
Muscular Dystrophy - MedlinePlus
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Offers links to news stories, specific conditions, articles on coping with the illness, and more.
http://www.nlm.nih.gov/medlineplus/musculardystrophy.html
www.nlm.nih.gov
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summary
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular ...
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... in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B) ... Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in ...
http://www.ncbi.nlm.nih.gov/pubmed/17107595?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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Muscular Dystrophy, Emery Dreifuss - Yahoo! Health
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Important It is possible that the main title of the report Muscular Dystrophy, Emery Dreifuss is not the name you expected. Please check the synonyms listing to ...
http://health.yahoo.com/children-resources/muscular-dystroph...
health.yahoo.com
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summary
Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular ...
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Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. ... Autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) is one of a ...
http://www.ncbi.nlm.nih.gov/pubmed/17329105
www.ncbi.nlm.nih.gov
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Muntoni
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72-6 Emery-Dreifuss muscular dystrophy is an X-linked neuromuscular disorder ... Emery-Dreifuss muscular dystrophy should therefore be considered in the ...
http://www.ncbi.nlm.nih.gov/pubmed/09608559
www.ncbi.nlm.nih.gov
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Muscular dystrophy: Symptoms - MayoClinic.com
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Muscular dystrophy â?" Comprehensive overview covers symptoms, causes, treatment of this muscle disease. ... Emery-Dreifuss muscular dystrophy ...
http://www.mayoclinic.com/health/muscular-dystrophy/DS00200/DSECTION=symptoms
www.mayoclinic.com
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summary
Multiple roles for emerin: implications for Emery-Dreifuss muscular ...
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Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. ... X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through ...
http://www.ncbi.nlm.nih.gov/pubmed/16761279
www.ncbi.nlm.nih.gov
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summary
Muscular Dystrophy: Hope Through Research: National Institute of ...
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Onset of Emery-Dreifuss MD is usually apparent by age 10, but symptoms can ... Patients with either Emery-Dreifuss or myotonic MD may eventually require a ...
http://www.ninds.nih.gov/disorders/md/detail_md.htm
www.ninds.nih.gov
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Search Results - Genetics Home Reference
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Found: ...in people with Emery-Dreifuss muscular dystrophy. ... Found: ...reported in people with Emery-Dreifuss muscular dystrophy. ...
http://ghr.nlm.nih.gov/ghr/search?query="Muscular+Dystrophy"&show=genes
ghr.nlm.nih.gov
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Talk:Emery-Dreifuss muscular dystrophy - Wikipedia, the free encyclopedia
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Talk:Emery-Dreifuss muscular dystrophy. From Wikipedia, the free encyclopedia ... Retrieved from "http://en.wikipedia.org/wiki/Talk:Emery-Dreifuss_muscular_dystrophy" ...
http://en.wikipedia.org/wiki/Talk:Emery-Dreifuss_muscular_dystrophy
en.wikipedia.org
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Identification of a novel X-linked gene responsible for Emery-Dreifuss ...
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Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder ... Muscular Dystrophy, Emery-Dreifuss. Nuclear Proteins. RNA, Messenger/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/7894480?ordinalpos=1&itoo...
www.ncbi.nlm.nih.gov
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NINDS Neuroscience Funding Announcements PAS-01-041: National Institute ...
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... dystrophy (DM), congenital muscular dystrophy (CMD), Emery-Dreifuss muscular dystrophy (EMD), or other forms of muscular dystrophy. ...
http://www.ninds.nih.gov/funding/funding_announcements/pa/PAS-01-041.htm
www.ninds.nih.gov
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Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss ...
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Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. ... Muscular Dystrophy, Emery-Dreifuss. Mutation* Nuclear Proteins ...
http://www.ncbi.nlm.nih.gov/pubmed/09195226
www.ncbi.nlm.nih.gov
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Oculopharyngeal muscular dystrophy - Wikipedia, the free encyclopedia
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... Emery-Dreifuss ? Facioscapulohumeral ? Limb-girdle muscular dystrophy ? Myotonic ... (Becker's, Duchenne) · Emerin Emery-Dreifuss. Myotonia/Channelopathy ...
http://en.wikipedia.org/wiki/Oculopharyngeal_muscular_dystrophy
en.wikipedia.org
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Clinical and molecular genetic spectrum of autosomal dominant Emery ...
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... autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations ... Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures ...
http://www.ncbi.nlm.nih.gov/pubmed/10939567
www.ncbi.nlm.nih.gov
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Activation of MAPK pathways links LMNA mutations to cardiomyopathy in ...
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... links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. ... in a knockin mouse model of autosomal dominant Emery-Dreifuss muscular dystrophy. ...
http://www.ncbi.nlm.nih.gov/pubmed/17446932?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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Muscle Disorders - Genetics Home Reference
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Duchenne and Becker muscular dystrophy. Emery-Dreifuss muscular dystrophy ... myotonic dystrophy. neutral lipid storage disease with myopathy ...
http://ghr.nlm.nih.gov/conditionGroup=muscledisorders
ghr.nlm.nih.gov
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Circulating autoantibodies to troponin I in Emery-Dreifuss muscular ...
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Circulating autoantibodies to troponin I in Emery-Dreifuss muscular dystrophy. ... dilated cardiomyopathy in Emery- Dreifuss muscular dystrophy (EDMD) is still ...
http://www.ncbi.nlm.nih.gov/pubmed/19108570
www.ncbi.nlm.nih.gov
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