Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family.

@article{Arruda1999HereditaryMA,
  title={Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family.},
  author={W. O. Arruda and E. A. Comerlato and R. Scola and C. Silvado and L. Werneck},
  journal={Arquivos de neuro-psiquiatria},
  year={1999},
  volume={57 2A},
  pages={
          190-4
        }
}
  • W. O. Arruda, E. A. Comerlato, +2 authors L. Werneck
  • Published 1999
  • Medicine
  • Arquivos de neuro-psiquiatria
    • We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus… CONTINUE READING
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