Article
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Nature genetics - 1 Feb 2006
Jordanova Albena, Irobi Joy, Thomas Florian P, Van Dijck Patrick, Meerschaert Kris, Dewil Maarten, Dierick Ines, Jacobs An, De Vriendt Els, Guergueltcheva Velina, Rao Chitharanjan V, Tournev Ivailo, Gondim Francisco A A, D'Hooghe Marc, Van Gerwen Veerle, Callaerts Patrick, Van Den Bosch Ludo, Timmermans Jean-Pièrre, Robberecht Wim, Gettemans Jan, Thevelein Johan M, De Jonghe Peter, Kremensky Ivo, Timmerman Vincent
Abstract excerpt
Charcot-Marie-Tooth (CMT) neuropathies are common disorders of the peripheral nervous system caused by demyelination or axonal degeneration, or a combination of both features. We previously assigned the locus for autosomal dominant intermediate CMT neuropathy type C (DI-CMTC) to chromosome 1p34-p35. Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in...
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