Article
A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1.
eLife - 24 Dec 2015
Liu Yi Bessie, Tewari Ambika, Salameh Johnny, Arystarkhova Elena, Hampton Thomas G, Brashear Allison, Ozelius Laurie J, Khodakhah Kamran, Sweadner Kathleen J
Abstract excerpt
A new mutant mouse (lamb1t) exhibits intermittent dystonic hindlimb movements and postures when awake, and hyperextension when asleep. Experiments showed co-contraction of opposing muscle groups, and indicated that symptoms depended on the interaction of brain and spinal cord. SNP mapping and exome sequencing identified the dominant causative mutation in the Lamb1 gene. Laminins are extracellular matrix proteins,...
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