Condition: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4


rs746763506 in FKTN gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 PMID 14627679 2003 A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.