Original paper
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
Abstract
Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. We report 7 patients presenting at birth with severe progressive neurological impairment, bilateral cataract, growth retardation and early lethality. All...
Paper Details
Title
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
Published Date
Feb 5, 2019
Journal
Volume
10
Issue
1