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Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation

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Footnotes

  • Contributors TY wrote the article, clinically assessed the subjects, performed most of the literature search and organised clinical photography. NS directed the photography and interpreted findings. JP clinically assessed the subjects and other family members, in addition to collecting information for the family tree. FDB performed pupillometry with a full report, and revised the article. The patients were under the care of DN who was responsible for the concept, design and revision of the article.

  • Funding None.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.