Associated Papers
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P21
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.
Kotruchow K et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.
Park SY et al.
Neurogenetics, 2012
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
Chung KW et al.
Brain : a Journal of Neurology, 2006
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