Article
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Annals of neurology - 1 May 2004
Bennett Craig L, Shirk Andrew J, Huynh Huy M, Street Valerie A, Nelis Eva, Van Maldergem Lionel, De Jonghe Peter, Jordanova Albena, Guergueltcheva Velina, Tournev Ivailo, Van Den Bergh Peter, Seeman Pavel, Mazanec Radim, Prochazka Tomas, Kremensky Ivo, Haberlova Jana, Weiss Michael D, Timmerman Vincent, Bird Thomas D, Chance Phillip F
Abstract excerpt
Charcot-Marie-Tooth neuropathy type 1C (CMT1C) is an autosomal dominant demyelinating peripheral neuropathy caused by missense mutations in the small integral membrane protein of lysosome/late endosome (SIMPLE) gene. To investigate the prevalence of SIMPLE mutations, we screened a cohort of 152 probands with various types of demyelinating or axonal and pure motor or sensory inherited neuropathies. SIMPLE...
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