Results 161 to 170 of about 6,857 (212)

Advanced Heart Failure Therapies in Neuromuscular Diseases. [PDF]

Curr Treat Options Cardiovasc Med
Agdamag AC, Nandar PP, Tang WHW.
europepmc   +1 more source

Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis. [PDF]

Int J Mol Sci
Lisowska M, Rowińska M, Suszyńska A, Bearzi C, Łaczmańska I, Hanusek J, Kunik A, Dzianisava V, Rzepecki R, Machowska M, Piekarowicz K.   +10 more
europepmc   +1 more source

Effect of nutritional therapy in Emery-Dreifuss muscular dystrophy: a case report. [PDF]

Front Nutr
Valoriani F, Pinelli G, Gabriele S, Menozzi R.   +3 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

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

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

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

Orthopedic Deformities in Emery–Dreifuss Muscular Dystrophy

Journal of Pediatric Orthopaedics, 1991
Orthopedic deformities in Emery-Dreifuss muscular dystrophy are discussed based on a study of four patients and an extensive literature review. The condition is characterized by slowly progressive humeroperoneal muscle weakness; ankle equinus, elbow flexion, and neck extensor muscle contractures; paravertebral muscle tightness; and cardiac ...
F, Shapiro, L, Specht
openaire   +2 more sources