Mutation of proteolipid protein 1 gene: from severe hypomyelinating leukodystrophy to inheritedspastic paraplegia

HIGHLIGHTS

  • who: Guy Khalaf and collaborators from the Center for Leukodystrophies, LEUKOFRANCE, Hu00f4pital Robert Debru00e9, Paris, France have published the Article: Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to InheritedSpastic Paraplegia, in the Journal: Biomedicines 2022, 10, 1709. of 10/06/2022

SUMMARY

    A major advancement in the genetic understanding of the disease was made with the assignment of the PLP1 gene to the X chromosome and the identification of Plp1 abnormalities in various hypomyelinated animal mutants. The most frequent genetic alteration underlying PMD sporadic forms is the duplication of the . . .

     

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