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SHALBAFAN B.

Last name: SHALBAFAN B.

2019 (v1)

Publication

Metadata-only

Genotype-phenotype correlations in charcot-marie-tooth disease due to mtmr2 mutations and implications in membrane trafficking

Wang H. Bayram A. K. Sprute R.

Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is crucial for the modulation of membrane trafficking. To enable future clinical trials, we...

Uploaded on: April 14, 2023