A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
Guilbot A; Williams A; Ravisé N; Verny C; Brice A; Sherman DL; Brophy PJ; LeGuern E; Delague V; Bareil C; Mégarbané A; Claustres M; Human Molecular Genetics, 2001, vol. 10, issue 4, p 415, ISSN 09646906. ISBN 09646906.

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