Condition: Fukuyama Type Congenital Muscular Dystrophy
rs119464998 in
FKTN gene and
Fukuyama Type Congenital Muscular Dystrophy
PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.
PMID 19396839 2009 Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
PMID 20620061 2010 Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
PMID 17597323 2008 Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
PMID 18177472 2008 Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
PMID 22958903 2012 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.
PMID 14627679 2003 A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
PMID 26809617 2016 Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.