Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature

@article{Luigetti2012InheritedNA,
  title={Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature},
  author={Marco Luigetti and Marcella Zollino and Guido Conti and Angela R. Romano and Mario Sabatelli},
  journal={Neurological Sciences},
  year={2012},
  volume={34},
  pages={1705-1707}
}
Charcot–Marie–Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2) [1]. The most common form is CMT1A, due to duplication of a 1.4MB region containing the gene encoding the peripheral myelin protein 22 (PMP22) [1]. CMT1A typically presents with sensori-motor, length-dependent neuropathy associated with marked and homogeneous slowing of nerve conduction velocities [1]. Deletion of the same… CONTINUE READING

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