What Does 601239 Mean?
What Does 601239 Mean?
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Dtna and syncoilin colocalized on the neuromuscular junction of skeletal muscle. Newey et al. (2001) concluded that DTNA offers a hyperlink between dystrophin protein elaborate plus the intermediate filament network for the neuromuscular junction.
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g., LGMD2C; 253700). regular dystrobrevin staining was noticed in sufferers with other kinds of limb-girdle muscular dystrophy wherever dystrophin and the rest of the dystrophin-connected protein sophisticated are Usually expressed (e.g., LGMD2A; 253600), and also in other neuromuscular Problems. Their effects showed that dystrobrevin deficiency is really a generic function of dystrophies associated with dystrophin as well as dystrophin-related proteins. This was the 1st sign that a cytoplasmic ingredient in the dystrophin-involved protein complex may be involved with the pathogenesis of limb-girdle muscular dystrophy.
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Be aware: OMIM is intended to be used largely by physicians together with other professionals worried about genetic Problems, by genetics scientists, and by Highly developed students in science and medicine. when the OMIM database is open up to the public, users trying to get details about a personal healthcare or genetic affliction are urged to refer to with a qualified physician for prognosis and for answers to personal issues. OMIM® and on the web Mendelian Inheritance in male® are registered trademarks with the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College. Printed: July 7, 2024 ×
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Two alternatively spliced exons (exons 11A and twelve) are used exclusively in striated muscle. A comparison of the genomic organization of dystrophin and dystrobrevin confirmed which the two genes have sizeable similarities inside their genomic composition, implying an ancestral or evolutionary romance.
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