The rare G93D mutation causes a slowly progressing lower motor neuron disease.
作者： Gabriella Restagno , Federica Lombardo , Luca Sbaiz , Cristina Mari , Cinzia Gellera
DOI: 10.1080/17482960701788198
关键词: Biology 、 Mutation (genetic algorithm) 、 Pathology 、 Amyotrophic lateral sclerosis 、 Physiology 、 Penetrance 、 Obligate 、 Family member 、 Lower motor neuron disease 、 SOD1 、 Disease
摘要: We describe an ALS family with the rare SOD1 G93D mutation. Three members of developed at age ranging from 45 to 71 years. In all cases pyramidal signs were not evident. Two obligate gene carriers, and died 56 81years, respectively, without developing or symptoms. The mutation was found in DNA extracted hair bulbs two deceased carriers another member who 80 years any sign disease. This study shows that causes a slowly lower motor neuron disease reduced penetrance.
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