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In a 5-year-old boy, born of consanguineous Omani parents, with hypomyelinating leukodystrophy-20 (HLD20; 619071), Al-Abdi et al. (2020) identified a homozygous missense mutation in the CNP gene (S82L; 123830.0001). The mutation, which was found by a combination of autozygosity mapping and exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient fibroblasts showed defects in cytoskeletal organization with abnormal F-actin structure. The authors noted that CNP encodes a major component of myelin and is expressed in myelin-forming oligodendrocytes in the central nervous system.
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Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry's standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem IpsumCSS code: .background color:#123830;Color Preview with background colorLorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry's standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem IpsumCSS code: .background background-color:#123830;Color Palette Collection 100 Rose Flower Nature Color Palettes100 color palettes with 500 colors. 041b061a72