Early-onset CMT 1 B due to the MPZ mutation c . 320 A > T associated with collateral inclusion body myopathy and Deafness

@inproceedings{Finsterer2013EarlyonsetC1,
  title={Early-onset CMT 1 B due to the MPZ mutation c . 320 A > T associated with collateral inclusion body myopathy and Deafness},
  author={Josef Finsterer and Christine Haberler and Michaela Auer-Grumbach},
  year={2013}
}
Aims: To present the case of a patient with early-onset demyelinating neuropathy due to a MPZ-mutation, associated with deafness and inclusion-body-myopathy. Methods: Nerve conduction studies, electromyography, muscle biopsy, genetic testing. Results and Discussion: In a 46yo male with slowly progressive weakness and wasting since childhood initially of the… CONTINUE READING