Phenotype: Nemaline myopathy 1


OMIM: 609284
Inheritance: Multiple
Classification: Diseases of the nervous system

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TPM3 || c.855delA (913delA)

Gene/Locus:    TPM3
Dna Change:    c.855delA (913delA)
Protein Change:    p.*286AsnextX73
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 10
Transcript:    NM_152263.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNANA4 patients/2 unrelated familiesNALehtokari VL et al., 2008Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloglu H, Laing NG, Wallgren-Pettersson C, . Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.. Eur. J. Hum. Genet.. 2008; 16(9):1055-61

References

Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloglu H, Laing NG, Wallgren-Pettersson C, Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.Eur. J. Hum. Genet.. 2008; 16(9):1055-61