2013
DOI: 10.1590/0004-282x20130031
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Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E)

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“…His parents were considered to be unaffected by history taking, but genetic testing was not done. As a mutation of the same amino acid site, a p.L16P was reported in CMT1E with proptosis [ 29 ] and Dejerine-Sottas neuropathy patients [ 12 ]. The c.68C>G (p.T23R) mutation was found in three CMT1 families (FC50, FC303, and FC680).…”
Section: Resultsmentioning
confidence: 99%
“…His parents were considered to be unaffected by history taking, but genetic testing was not done. As a mutation of the same amino acid site, a p.L16P was reported in CMT1E with proptosis [ 29 ] and Dejerine-Sottas neuropathy patients [ 12 ]. The c.68C>G (p.T23R) mutation was found in three CMT1 families (FC50, FC303, and FC680).…”
Section: Resultsmentioning
confidence: 99%