Abstract:
:The frequency of a recently described point mutation of the ciliary neurotrophic factor (CNTF) gene was investigated in a population of 154 German patients with motor neuron disease (MND). Twenty-two percent of the patients were heterozygous, 2% homozygous for the CNTF mutation. Since the gene defect is per se not linked to MND, the identification of additional gene defects occurring simultaneously with this mutation could be informative for the understanding of pathogenic mechanisms of MND.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Giess R,Goetz R,Schrank B,Ochs G,Sendtner M,Toyka Kdoi
10.1002/(sici)1097-4598(199802)21:2<236::aid-mus12subject
Has Abstractpub_date
1998-02-01 00:00:00pages
236-8issue
2eissn
0148-639Xissn
1097-4598pii
10.1002/(SICI)1097-4598(199802)21:2<236::AID-MUS12journal_volume
21pub_type
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