"Dystrophinopathies" Pronounce,Meaning And Examples

"Dystrophinopathies" Natural Recordings by Native Speakers

Dystrophinopathies
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"Dystrophinopathies" Meaning

Dystrophinopathies are a group of genetic disorders caused by mutations in the dystrophin gene. This gene encodes a protein called dystrophin, which plays a crucial role in maintaining the integrity of muscle fibers. The mutations can lead to the degradation or absence of dystrophin, resulting in muscle weakness, wasting, and degeneration. The most well-known dystrophinopathy is Duchenne muscular dystrophy (DMD), a severe and progressive form of muscular dystrophy that typically affects young boys and leads to severe muscle weakness, mobility loss, and respiratory and cardiac complications.

"Dystrophinopathies" Examples

Dystrophinopathies


Example sentences:


The treatment of dystrophinopathies, such as Duchenne muscular dystrophy, has been a major challenge for medical researchers.
The genetic testing helped diagnose the patient's rare form of dystrophinopathy and guided the development of a personalized treatment plan.
Dystrophinopathies, a group of muscular dystrophy disorders, are characterized by progressive muscle weakness and wasting.
The study aimed to develop a novel gene therapy for dystrophinopathies, which could potentially halt the progression of the disease.
Patients with dystrophinopathies often require physical therapy and rehabilitation to maintain muscle function and independence.

Synonyms:


Muscular dystrophies
Duchenne muscular dystrophy
Becker muscular dystrophy

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Dystroglycan is a protein complex that plays a crucial role in maintaining the structure and integrity of the muscle and nerve cell membranes. It is a integral membrane protein that is composed of two subunits: alpha-dystroglycan and beta-dystroglycan. The complex helps to anchor the extracellular matrix, such as laminin, to the muscle and nerve cell membranes, which is essential for maintaining the proper functioning of these cells. abnormalities in the dystroglycan complex have been linked to various muscular dystrophies and neurological disorders.

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Dystrophinopathy

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Dystrophinopathy refers to a group of genetic disorders that affect the production of dystrophin, a protein that is essential for the structural integrity of muscle fibers. Dystrophinopathy can cause muscle weakness, degeneration, and wasting, and can result in conditions such as Duchenne muscular dystrophy and Becker muscular dystrophy. These conditions are often characterized by muscle weakness, especially in the legs, arms, and pelvic area, and can lead to muscle cramps, weakness, and loss of mobility. If left untreated, dystrophinopathy can lead to severe muscle damage and disability, making it a significant medical concern.

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