Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.01.010
Abstract: Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM,… read more here.
Keywords: missense variants; mirror movements; dcc variants; congenital mirror ... See more keywords
Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
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;