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A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
J Neuromuscul Dis. 2020;7(4):505-510. doi: 10.3233/JND-190460.
J Neuromuscul Dis. 2020.
PMID: 32538861
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T, Pion E, Cossée M, Krahn M, Stojkovic T, Perrin A, Cerino M, Molon A, Lia AS, Magdelaine C, Francou B, Guiochon-Mantel A, Malinge MC, Leguern E, Lévy N, Attarian S, Latour P, Bonello-Palot N.
Benquey T, et al.
Genes (Basel). 2022 Feb 9;13(2):318. doi: 10.3390/genes13020318.
Genes (Basel). 2022.
PMID: 35205364
Free PMC article.
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