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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886039/
https://www.ncbi.nlm.nih.gov/pubmed/33405357
http://dx.doi.org/10.1002/acn3.51175

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886039/
https://www.ncbi.nlm.nih.gov/pubmed/33405357
http://dx.doi.org/10.1002/acn3.51175

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