Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

@article{Ionasescu1996AutosomalDC,
  title={Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).},
  author={V. Ionasescu and Charles Searby and Val C. Sheffield and T Roklina and Darryl Y Nishimura and Rebecca Ionasescu},
  journal={Human molecular genetics},
  year={1996},
  volume={5 9},
  pages={
          1373-5
        }
}
Clinical, electrophysiological and genetic linkage studies were performed on a large autosomal dominant family with Charcot-Marie-Tooth axonal neuropathy type 2 (CMT2) with 38 members of which 14 were affected. Onset of the disease was between 16 and 30 years of age with weakness and atrophy of the hands more severe than of the feet with slow progressive course in 12 patients. Deep tendon reflexes were absent in the upper extremities and decreased in the lower extremities. There was distal… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 19 REFERENCES

CharcotMarie-Tooth neuropathy type 1A with both duplication and nonduplication

V. Ionasescu, R. lonasescu, Searby, Ch, D. F. Barker
  • Hum . Mol . Genet .
  • 1993

Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity

K. Ben Othmane, L. T. Middleton, +8 authors J. M. Vance
  • Genomics,
  • 1993
VIEW 1 EXCERPT