Article
Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins.
Glia - 1 Aug 1997
Thomson C E, Montague P, Jung M, Nave K A, Griffiths I R
Abstract excerpt
Mutations of the major myelin gene, proteolipid protein (Plp), cause Pelizaeus-Merzbacher disease and some forms of spastic paraplegia in man and dysmyelinating phenotypes in animals. The clinical severity is markedly heterogeneous, ranging from relatively mild to severe and fatal. Point mutations, or frame shifts, which are predicted to result in translation of structurally altered proteins account for many of...
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