Article
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.
European journal of human genetics : EJHG - 1 May 2018
Tunca Ceren, Akçimen Fulya, Coşkun Cemre, Gündoğdu-Eken Aslı, Kocoglu Cemile, Çevik Betül, Bekircan-Kurt Can Ebru, Tan Ersin, Başak A Nazlı
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to recessive inheritance, has become evident with the use of NGS technologies. In this paper, we describe a family with close consanguinity for at least four generations, suffering from a slowly...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.