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Letter

Nature Genetics 38, 197–202 (1 February 2006) | doi:10.1038/ng1727

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Albena Jordanova , Joy Irobi , Florian P Thomas , Patrick Van Dijck , Kris Meerschaert , Maarten Dewil , Ines Dierick , An Jacobs , Els De Vriendt , Velina Guergueltcheva , Chitharanjan V Rao , Ivailo Tournev , Francisco A A Gondim , Marc D'Hooghe , Veerle Van Gerwen , Patrick Callaerts , Ludo Van Den Bosch , Jean-Pi|[egrave]|rre Timmermans , Wim Robberecht , Jan Gettemans , Johan M Thevelein , Peter De Jonghe , Ivo Kremensky & Vincent Timmerman

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.