TY  - GEN
T1  - ­Using the C. elegans lem-2 Gene to Reconstruct the Human LEMD2 Mutation Associated with Hutterite-type Cataract/Cardiomyopathy
AU  - AlKhaleefa, Ayaa
AU  - Snider, Frances L.
AU  - Duff, Henry J.
AU  - McGhee, James D.
DO  - 10.17912/micropub.biology.000273
UR  - http://beta.micropublication.org/journals/biology/micropub-biology-000273/
AB  - The human LEMD2 protein and its homologs in other animals are associated with the inner nuclear membrane, the nuclear lamina and with functions such as chromatin organization and nuclear repair (Barton et al. 2015). The human mutation (c.38T>G; L13R) changes a single amino acid in the highly conserved LEM domain and, when homozygous, is associated with juvenile cataracts and with a greatly increased incidence of early onset cardiac arrest (Shokeir and Lowry 1985; Boone et al. 2016; Abdelfatah et al. 2019). The carrier frequency of this mutation in the North American Hutterite population is estimated to be as high as 12% (Abdelfatah et al. 2019).
PY  - 2020
JO  - microPublication Biology
ER  -