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- W4316500830 abstract "Pelizaeus and Merzbacher reported the occurrence of a hereditary central nervous system disease which affected mostly male members of a large family. Pelizaeus-Merzbacher disease may even be a rare cause of arthrogryposis multiplex. The atrophic limbs may suggest motor neuron disease such as Werdnig-Hoffmann disease, but psychomotor retardation is not part of this infantile progressive spinal muscular atrophy. Watanabe et al. had the opportunity to study the brain biopsies of two unrelated patients with Pelizaeus-Merzbacher disease by electron microscopy. In both cases, adequate pedigree information was available to support the diagnosis of an X-linked recessive disease. A peripheral nerve biopsy in a patient with suspected Pelizaeus-Merzbacher disease may support the diagnosis if immunocytochemistry or Western blots fail to detect proteolipid protein. Morphological observations allow the conclusion that myelin deficiency in Pelizaeus-Merzbacher disease is due to deficient assembly rather than removal of normally developed myelin." @default.
- W4316500830 created "2023-01-16" @default.
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- W4316500830 date "2023-01-16" @default.
- W4316500830 modified "2023-10-13" @default.
- W4316500830 title "Pelizaeus-Merzbacher Disease: X-Linked Proteolipid Protein Deficiency in the Human Central Nervous System" @default.
- W4316500830 doi "https://doi.org/10.1201/9780203746141-28" @default.
- W4316500830 hasPublicationYear "2023" @default.
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