Tag: muscular dystrophy
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Pelger–Huët anomaly, congenital and acquired, also pince-nez, laminopathy and a little ebola
Pelger–HuĂ«t anomaly is a blood laminopathy associated with the lamin B receptor, wherein several types of white blood cells (neutrophils and eosinophils) have nuclei with unusual shape (being bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy). It is a genetic disorder with an autosomal dominant inheritance pattern. Heterozygotes are clinically normal, although their neutrophils may be mistaken for immature cells which may cause…
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Dystrophin
Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa [5][6] Dystrophin is coded for by…
