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...

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Vydáno v:Neurol Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2021
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7962437/
https://ncbi.nlm.nih.gov/pubmed/33732874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000566
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