Article
Identification of ten novel mutations in patients with eIF2B-related disorders.
Human mutation - 1 Apr 2005
Ohlenbusch Andreas, Henneke Marco, Brockmann Knut, Goerg Maria, Hanefeld Folker, Kohlschütter Alfried, Gärtner Jutta
Abstract excerpt
Autosomal recessive inherited mutations in each of the five eukaryotic initiation factor 2B (eIF2B) subunits are known to cause white matter abnormalities with a wide continuum of clinical signs and severity leading to the concept of eIF2B-related disorders. The clinical spectrum extends from fatal infantile forms to adult forms with slow or absent neurological deterioration. In this study 15 well-characterised...
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