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dystrofín
Č. záznamu d016189 Dátum 06.06.2025 Typ M - MESH Tematický termín dystrofín Pozri tiež (Skutočné meno) myši inbredné mdx
(Skutočné meno) Duchenneova svalová dystrofia
(Novšie záhlavie) Duchenneova svalová dystrofia
MDT D12.776.210.500.250D12.776.220.250D12.776.543.250 Poznámka A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa. 
predmetové heslo
Počet záznamov: 1