Article
Peripheral neuropathy caused by proteolipid protein gene mutations.
Annals of the New York Academy of Sciences - 14 Sept 1999
Garbern J Y, Cambi F, Lewis R, Shy M, Sima A, Kraft G, Vallat J M, Bosch E P, Hodes M E, Dlouhy S, Raskind W, Bird T, Macklin W, Kamholz J
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is a dysmyelinating disorder of the central nervous system typically caused by duplications or missense mutations of the proteolipid protein (PLP) gene. Most investigators have found that peripheral nerve function and structure is normal in PMD patients. We have found that null mutations of the PLP gene cause demyelinating peripheral neuropathy, whereas duplications and a...
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