Associated Papers
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Wang H et al.
Frontiers in Neuroscience, 2019
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.
Luigetti M et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Recessively transmitted predominantly motor neuropathies.
Parman Y et al.
Handbook of Clinical Neurology, 2013
Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.
Goryunov D et al.
Journal of Neurochemistry, 2008
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