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Titin mutations are associated with hereditary myopathy with early respiratory failure, [46] [47] early-onset myopathy with fatal cardiomyopathy, [48] core myopathy with heart disease, centronuclear myopathy, limb-girdle muscular dystrophy type 2J, [49] familial dilated cardiomyopathy 9, [11] [50] hypertrophic cardiomyopathy and tibial muscular ...
In mature sarcomeres, wild-type myotilin colocalizes with alpha-actinin and Z-disc titin, showing the striated pattern typical of sarcomeric proteins. Targeted disruption of the myotilin gene in mice does not cause significant alterations in muscle function. [16] On the other hand, transgenic mice with mutated myotilin develop muscle dystrophy ...
This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously ...
The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy.
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
When it comes to muscular diseases, most of us have heard of especially common ones like muscular dystrophy and Lou Gehrig's disease. But one of the rarest muscular disorders is also one of the ...
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. [1] In DM, muscles are often unable to relax after contraction. [1] Other manifestations may include cataracts, intellectual disability and heart conduction problems.
The deletions of one or several exons of the dystrophin DMD gene cause Duchenne and Becker muscular dystrophies. [13] The large cytosolic protein was first identified in 1987 by Louis M. Kunkel, [14] after concurrent works by Kunkel and Robert G. Worton to characterize the mutated gene that causes Duchenne muscular dystrophy (DMD).