Variant: rs104894683 

    present in Gene: FKRP
    present in Chromosome: 19
    Position on Chromosome: 46755685
    Alleles of this Variant: G/A

rs104894683 in FKRP gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I PMID 14647208 2003 Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

PMID 11741828 2001 Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

PMID 23800702 2013 Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.

PMID 14523375 2004 Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

PMID 30345904 2018 Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.