A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

@article{Boubaker2013ANM,
  title={A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.},
  author={Chokri Boubaker and In{\`e}s Hsairi-Guidara and Christel Castro and Ines Ayadi and Amandine Boyer and Emna Kerkeni and Jo{\"e}l Courageot and Imen Abid and Rafa{\"e}lle Bernard and Nathalie Bonello-Palot and Fatma F Kamoun and Hassen Ben Cheikh and Nicolas L{\'e}vy and Chahnez Triki and Val{\'e}rie Delague},
  journal={Annals of human genetics},
  year={2013},
  volume={77 4},
  pages={336-43}
}
Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal extremities with chronic distal weakness, deformation of the feet, and loss of deep tendon reflexes. CMT4H is an autosomal recessive demyelinating subtype of CMT, due to mutations in FGD4/FRABIN, for which nine mutations are described to date. In this study, we describe three patients from a consanguineous… CONTINUE READING

References

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Further evidence that mutations in FGD 4 / frabin cause CharcotMarieTooth disease type 4 H

  • M. L. Feltri
  • 2009

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