Condition: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2


rs961440747 in GSTZ1;POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

rs1185491348 in POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

PMID 24002165 2014 Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

PMID 17634419 2007 New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

PMID 28980384 2017 Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

PMID 17878297 2007 IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs.

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

PMID 17923109 2007 POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 26495167 2015 Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.

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.