Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maxime Lafontaine"'
Autor:
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
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 471-476 (2021)
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 a
Externí odkaz:
https://doaj.org/article/f6c2da330a8a466eb333ead662ffe8a4
Autor:
Catherine Sarret, Fanny Laffargue, Laurent Magy, Maxime Lafontaine, Marie-Christine Arne-Bes, Hélène Beauvais-Dzugan, Anne-Sophie Lia, Franck Sturtz, Sylvie Bourthoumieu, Corinne Magdelaine, Paco Derouault, Armelle Magot
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2021, ⟨10.1002/acn3.51175⟩
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 471-476 (2021)
Annals of Clinical and Translational Neurology, 2021, ⟨10.1002/acn3.51175⟩
Annals of Clinical and Translational Neurology, Wiley, 2021, ⟨10.1002/acn3.51175⟩
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 471-476 (2021)
Annals of Clinical and Translational Neurology, 2021, ⟨10.1002/acn3.51175⟩
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 associatin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301d67680eeaf2356d9dbec96735e135
https://doi.org/10.1002/acn3.51175
https://doi.org/10.1002/acn3.51175