An Omics View of Emery–Dreifuss Muscular Dystrophy
نویسندگان
چکیده
منابع مشابه
congenital muscular dystrophy : an overview
congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
متن کاملDuchenne muscular dystrophy An overview of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) affects approximately 1 in 3,500 live male births [1]. It is caused by a large variety of mutations in the dystrophin gene. Because of these mutations, the body can no longer make dystrophin which is a protein important for stabilisation of the muscle cell during a contraction. Without dystrophin, muscle cells are damaged and slowly replaced by fat and scar tis...
متن کاملMuscular dystrophy.
MANY observers have reported pathologic changes in the myoeardium of patients with muscular dystrophy similar to those in the skeletal muscles.'-8 Clinical evidence of involvement of the heart has also been noted, consisting of persistent tachycardia,9 10 arrhythmias,10 congestive heart failure, chest pain, cardiac enlargement, changes in heart sounds, murmurs, electrocardiographic alterations ...
متن کاملMuscular Dystrophy
Introduction. First, we will give a general overview of the generation of muscle contraction in a normal cell. Skeletal muscle contraction is accomplished by the generation of a neuronal action potential that terminates at the neuromuscular synapse. The neuronal action potential (AP) stimulates sodium channels in the neuronal axon that propagates the signal along the axon. As the AP reaches the...
متن کاملMuscular dystrophy
Are things clearer now? Yes. A breakthrough came in 1987 when the causative gene for the most common severe form of MD, Duchenne muscular dystrophy (DMD — the field is rich in eponyms, too) was found. Since then, the genes affected in many MDs have been discovered, enabling classification and diagnosis to be put on a much more secure footing. Some traditional disease categories have split as a ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Personalized Medicine
سال: 2020
ISSN: 2075-4426
DOI: 10.3390/jpm10020050