Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients

Abstract We describe the clinical, electrodiagnostic, and genetic findings of three homozygous FIG4‐c.122T>C patients suffering from Charcot‐Marie‐Tooth disease type 4J (AR‐CMT‐FIG4). This syndrome usually involves compound heterozygosity associating FIG4‐c.122T>C, a hypomorphic allele coding...

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Main Authors: Maxime Lafontaine, Anne‐Sophie Lia, Sylvie Bourthoumieu, Hélène Beauvais‐Dzugan, Paco Derouault, Marie‐Christine Arné‐Bes, Catherine Sarret, Fanny Laffargue, Armelle Magot, Franck Sturtz, Laurent Magy, Corinne Magdelaine
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51175

Internet

https://doi.org/10.1002/acn3.51175

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