Clinical Phenotypes of Different (P) Mutations May Include Charcot?Marie?Tooth Type 1B, Dejerine?Sottas, and Congenital Hypomyelination (original) (raw)
distinct pathophysiologic entities, but rather represent Eva Nelis, 10 Christine Van Broeckhoven, 10 a spectrum of related "myelinopathies" due to an unand James R. Lupski 1, 11, 12 derlying defect in myelination. Furthermore, we hy-1 Department of Molecular and Human Genetics pothesize the differences in clinical severity seen with 3 Department of Neurology mutations in MPZ are related to the type of mutation 11 Department of Pediatrics and its subsequent effect on protein function (i.e., loss
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