Condition: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
rs119462987 in
POMT1 gene and
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
PMID 20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.
PMID 22549409 2012 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
PMID 17869517 2008 Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
PMID 15637732 2005 Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
PMID 12369018 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
PMID 24491487 2014 A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
PMID 18752264 2008 Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.
PMID 28116189 2016 A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
PMID 24304607 2013 Detection limit of intragenic deletions with targeted array comparative genomic hybridization.
rs150367385 in
POMT1;LOC105376301 gene and
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.
PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.