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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2021
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Materias: | |
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 |
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