Article
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Brain : a journal of neurology - 1 May 2008
Dierick Ines, Baets Jonathan, Irobi Joy, Jacobs An, De Vriendt Els, Deconinck Tine, Merlini Luciano, Van den Bergh Peter, Rasic Vedrana Milic, Robberecht Wim, Fischer Dirk, Morales Raul Juntas, Mitrovic Zoran, Seeman Pavel, Mazanec Radim, Kochanski Andrzej, Jordanova Albena, Auer-Grumbach Michaela, Helderman-van den Enden A T J M, Wokke John H J, Nelis Eva, De Jonghe Peter, Timmerman Vincent
Abstract excerpt
Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal alpha-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA synthetase (GARS), dynactin 1 (DCTN1), s...
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