A novel c132‐134del mutation in Unverricht‐Lundborg disease and the review of literature of heterozygous compound patients
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DOI: 10.1111/epi.13626
Abstract: Unverricht‐Lundborg disease or progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disease caused by mutation of the cystatin B gene (CSTB), located on chromosome 21q22.3. The most common mutation is an expansion of… read more here.
Keywords: lundborg disease; unverricht lundborg; heterozygous compound; mutation ... See more keywords