Condition: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3


rs190057175 in POMGNT1;TSPAN1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 PMID 28424332 2017 Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

PMID 18195152 2008 Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

rs138642840 in TSPAN1;POMGNT1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

PMID 24282183 2014 Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.

PMID 19679478 2009 An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.

PMID 24731844 2014 Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

PMID 23689641 2013 Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

PMID 21361872 2011 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

PMID 25390965 2012 Novel retinal findings in an infant with muscle-eye-brain disease.

PMID 17906881 2007 Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.