ABNORMAL MUSCULAR CONTRACTIONS.1
نویسندگان
چکیده
منابع مشابه
Abnormal Calcium Handling in Muscular Dystrophy
Duchenne muscular dystrophy, primarily caused by a deficiency in the membrane cytoskeletal protein dystrophin, is the most frequent neuromuscular disorder in humans and is characterized by progressive muscle weakness and wasting. This review outlines pathophysiological mechanisms of abnormal calcium handling by the sarcolemma, sarcoplasmic reticulum and mitochondria that may contribute to muscl...
متن کاملAbnormal protein synthesis in facioscapulohumeral muscular dystrophy.
Recently we have observed that muscle polyribosomes obtained from patients with Duchenne muscular dystrophy (DMD) synthesize abnormally large amounts of collagen when combined with soluble enzymes derived from the same patient's muscle.' Increased protein synthesis in the carrier state of DMD has also been observed and has proved useful in the detection of h e t e r o ~ ~ ~ o t e s . ~ In this ...
متن کاملAbnormal carbohydrate metabolism in a canine model for muscular dystrophy
The canine golden retriever muscular dystrophy (GRMD) model is the best animal model for studying Duchenne muscular dystrophy in humans. Considering the importance of glucose metabolism in the muscles, the existence of metabolic and endocrine alterations in a wide range of muscular dystrophies, and the pre-existing relationship between blood insulin concentration and muscular atrophy, the prese...
متن کاملAbnormal Ion Homeostasis and Cell Damage in Muscular Dystrophy
Disruption of cytoskeletal organization caused by genetic defects in the components of the dystrophin-glycoprotein complex (DGC) results in muscular dystrophy and/or cardiomyopathy in human patients and animal models. Accumulating evidence obtained from studies by using skeletal muscle fibers, cultured myotubes, and cardiac muscle preparations from dystrophic animals suggest that defects in DGC...
متن کاملCamptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.
A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome i...
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ژورنال
عنوان ژورنال: The Lancet
سال: 1904
ISSN: 0140-6736
DOI: 10.1016/s0140-6736(00)66563-7