Phenotype: Myopathy, distal, with anterior tibial onset


OMIM: 606768
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

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DYSF || c.5713C>T

Gene/Locus:    DYSF
Dna Change:    c.5713C>T
Protein Change:    p.Arg1905X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 51
Transcript:    NM_003494.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNASueca2 familiesNAVilchez JJ et al., 2005Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I, . Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.. Arch. Neurol.. 2005; 62(8):1256-9

References

Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I, Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.Arch. Neurol.. 2005; 62(8):1256-9