Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Distal hereditary motor neuropathy represents a group of motor inherited neuropathies leading to distal weakness. We report a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c.3G>T (p.1Met?) was identified in the COQ7 gene. This gene...

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Detalles Bibliográficos
Autores principales: Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valérie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stéphane, Puccio, Hélène, Pegat, Antoine, Schaeffer, Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393394/
https://www.ncbi.nlm.nih.gov/pubmed/36454683
http://dx.doi.org/10.1093/brain/awac453

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393394/
https://www.ncbi.nlm.nih.gov/pubmed/36454683
http://dx.doi.org/10.1093/brain/awac453

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