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 an uns...

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主要な著者:	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
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2021-02-01
シリーズ:	Annals of Clinical and Translational Neurology
オンライン･アクセス:	https://doi.org/10.1002/acn3.51175
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