Results 171 to 180 of about 8,751 (233)

Emery-Dreifuss Muscular Dystrophy

2013
Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogeneous muscular disease characterized by the triad of (1) early contractures of the elbows, ankles, and cervical spine; (2) humero-peroneal muscle wasting and weakness; and (3) cardiomyopathy (Emery AE, Dreifuss FE, J Neurol Neurosurg Psychiatry, 29:338–342, 1966).
N.M. MARALDI, L. MERLINI
openaire   +3 more sources

Emery-Dreifuss muscular dystrophy

The Journal of Pediatrics, 1984
Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac ...
R P, Dickey, F A, Ziter, R A, Smith
openaire   +2 more sources

Emery-Dreifuss muscular dystrophy

Current Neurology and Neuroscience Reports, 2007
Emery-Dreifuss muscular dystrophy (EDMD) is inherited in an X-linked or autosomal manner. X-linked EDMD is caused by mutations in EMD, which encodes an integral protein of the nuclear envelope inner membrane called emerin. Autosomally inherited EDMD is caused by mutations in LMNA, which encodes A-type nuclear lamins, intermediate filament proteins ...
Antoine, Muchir, Howard J, Worman
openaire   +2 more sources

Emery-Dreifuss Muscular Dystrophy

Seminars in Neurology, 1999
Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy. This disorder is characterized by childhood onset of early contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. Weakness is slowly progressive, but there is a broad spectrum of clinical severity. Patients and carriers are at risk
A S, Zacharias, M E, Wagener, S T, Warren, L C, Hopkins   +3 more
openaire   +2 more sources

Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study

Neuromuscular Disorders, 2022
Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder usually presenting in childhood with early contractures, slowly progressive scapulohumeroperoneal weakness/atrophy and potentially fatal dilated cardiomyopathy with conduction defects.
Gulshan Yunisova, S. Ceylaner, P. Oflazer, F. Deymeer, Y. Parman, H. Durmuş   +5 more
semanticscholar   +1 more source

Emery‐dreifuss muscular dystrophy

Annals of Neurology, 1979
AbstractA man had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows. At age 25 he developed permanent atrial paralysis, and a cardiac pacemaker was inserted. Although this case was sporadic, most others have been transmitted as an X‐linked recessive trait. Mixed patterns in electromyography
L P, Rowland, M, Fetell, M, Olarte, A, Hays, N, Singh, F E, Wanat   +5 more
openaire   +2 more sources

Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy

Journal of Neuromuscular Diseases, 2022
Emery-Dreifuss Muscular Dystrophy (EDMD) is an early-onset, slowly-progressive group of myopathies, presenting with joint contractures, muscle weakness and cardiac abnormalities. Variants in the EMD gene cause an X-linked recessive form (EDMD1).
M. Pinto, Y. Fromes, I. Ackermann-Bonan, F. Leturcq, Camille Verebi, N. Romero, T. Stojkovic   +6 more
semanticscholar   +1 more source

Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

Neuropediatrics, 2022
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities.
Chiara Panicucci, S. Casalini, M. Traverso, Noemi Brolatti, S. Baratto, L. Raffaghello, M. Pedemonte, L. Doglio, M. Derchi, G. Tasca, B. Damasio, C. Fiorillo, Claudio Bruno   +12 more
semanticscholar   +1 more source

Emery–Dreifuss muscular dystrophy

2011
Emery-Dreifuss muscular dystrophy (EDMD) is a progressive muscle-wasting disorder defined by early contractures of the Achilles tendon, spine, and elbows. EDMD is also distinctive for its association with defects of the cardiac conduction system that can result in sudden death.
Megan, Puckelwartz, Elizabeth M, McNally
openaire   +2 more sources

iPSC-derived cardiomyocytes and engineered heart tissues reveal suppressed JAK2/STAT3 signaling in LMNA-related emery-dreifuss muscular dystrophy

Redox Biology
LMNA mutation related Emery-Dreifuss muscular dystrophy (LMNA-related EDMD), is a rare genetic disorder often involving life-threatening cardiac complications.
Hangping Fan, Zongkuai Yang, Hangying Ying, Jiuxiao Zhao, Xiaochen Wang, Junhao Gong, Lingying Li, Xujie Liu, Tingyu Gong, Qing Ke, Lenan Zhuang, Ping Liang   +11 more
semanticscholar   +1 more source