A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

@article{Houlden2009ANF,
  title={A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.},
  author={Henry Houlden and Simon R. Hammans and Haider A Katifi and Mary M Reilly},
  journal={Neurology},
  year={2009},
  volume={72 7},
  pages={
          617-20
        }
}
BACKGROUND Charcot Marie Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies. CMT4H is an early onset autosomal recessive demyelinating neuropathy. The locus responsible for CMT4H was assigned to chromosome 12p11.21-q13.11 by homozygosity mapping and mutations in the Frabin gene (FGD4 Rho GDP/GTP exchange factor) were subsequently identified in six families. METHODS We sequenced the Frabin gene in a cohort of 12 UK CMT families with clinically… CONTINUE READING
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SHOWING 1-9 OF 9 REFERENCES

Homozygosity mapping of autosomal recessive demyelinating CharcotMarieTooth neuropathy ( CMT 4 H ) to a novel locus on chromosome 12 p 11 . 21q 13 . 11

  • A DeSandre-Giovannoli, V Delague, T Hamadouche
  • J Med Genet
  • 2005

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