Condition: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
rs746763506
in
FKTN
gene and
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
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.