Potential implications of a ciliary neurotrophic factor gene mutation in a German population of patients with motor neuron disease.

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 Nerve

journal_title

Muscle & nerve

authors

Giess R,Goetz R,Schrank B,Ochs G,Sendtner M,Toyka K

doi

10.1002/(sici)1097-4598(199802)21:2<236::aid-mus12

subject

Has Abstract

pub_date

1998-02-01 00:00:00

pages

236-8

issue

2

eissn

0148-639X

issn

1097-4598

pii

10.1002/(SICI)1097-4598(199802)21:2<236::AID-MUS12

journal_volume

21

pub_type

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