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

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 unstab...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Lafontaine, Maxime, Lia, Anne‐Sophie, Bourthoumieu, Sylvie, Beauvais‐Dzugan, Hélène, Derouault, Paco, Arné‐Bes, Marie‐Christine, Sarret, Catherine, Laffargue, Fanny, Magot, Armelle, Sturtz, Franck, Magy, Laurent, Magdelaine, Corinne
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7886039/
https://ncbi.nlm.nih.gov/pubmed/33405357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51175
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