CMT2 due to homozygous MFN2 variants is a multiorgan mitochondrial disorder
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference17 articles.
1. A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype;Iapadre;Eur J Paediatr Neurol,2018
2. Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression;Rocha;Elife,2017
3. Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease;Hikiami;J Hum Genet,2018
4. Visually evoked potentials in respiratory chain disorders;Finsterer;Acta Neurol Scand,2001
5. Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy;Tufano;J Peripher Nerv Syst,2015
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3. Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease;Frontiers in Cell and Developmental Biology;2021-02-01
4. Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach;Journal of the Pakistan Medical Association;2020-10-15
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