Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy

OBJECTIVE: To investigate the pathogenicity of a novel MT-ND3 mutation identified in a patient with adult-onset sensorimotor axonal polyneuropathy and report the clinical, morphologic, and biochemical findings. METHODS: Clinical assessments and morphologic and biochemical investigations of skeletal...

Descripción completa

Detalles Bibliográficos
Autores principales: Bruhn, Helene, Samuelsson, Kristin, Schober, Florian A., Engvall, Martin, Lesko, Nicole, Wibom, Rolf, Nennesmo, Inger, Calvo-Garrido, Javier, Press, Rayomand, Stranneheim, Henrik, Freyer, Christoph, Wedell, Anna, Wredenberg, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7962437/
https://www.ncbi.nlm.nih.gov/pubmed/33732874
http://dx.doi.org/10.1212/NXG.0000000000000566

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7962437/
https://www.ncbi.nlm.nih.gov/pubmed/33732874
http://dx.doi.org/10.1212/NXG.0000000000000566

Ejemplares similares