Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation
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DOI: 10.1016/j.nmd.2016.12.008
Abstract: Dystroglycanopathies are a heterogeneous group of muscular dystrophies often associated with variable brain and eye involvement. Glycosylated alpha-dystroglycan (ADG) plays a key role in the development and stability of basement membranes as well as organizing… read more here.
Keywords: pomk mutation; congenital mirror; mirror movements;