Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

@article{Zchner2005MutationsIT,
  title={Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease},
  author={Stephan Z{\"u}chner and Maher A. Noureddine and Marina L. Kennerson and Kristien Verhoeven and Kristl G. Claeys and Peter de Jonghe and John R. Merory and Sofia Almeida Oliveira and Marcy C. Speer and Judith E. Stenger and Gina Walizada and Danqing Zhu and Margaret A. Pericak-Vance and Garth A. Nicholson and Vincent Timmerman and Jeffery M. Vance},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={289-294}
}
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of peripheral neuropathies. Different chromosomal loci have been linked with three autosomal dominant, 'intermediate' types of CMT: DI-CMTA, DI-CMTB and DI-CMTC. We refined the locus associated with DI-CMTB on chromosome 19p12–13.2 to 4.2 Mb in three unrelated families with CMT originating from Australia, Belgium and North America. After screening candidate genes, we identified unique mutations in dynamin 2… 
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TLDR
Evidence is presented that at least one CMT-causing DNM2 mutant forms polymers that, like the CNM mutants, are resistant to disassembly and display enhanced GTPase activation, and that the ΔDEE mutant undergoes 2-3-fold higher levels of tyrosine phosphorylation than wild-type D NM2.
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TLDR
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Mutations in FGD 4 encoding the Rho GDP / GTP Exchange Factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4 H
TLDR
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Progressive Neuromuscular Syndromes Linked to Dynamin-2 Mutations
Mutations in dynamin-2 are associated with several neuromuscular disorders, including two forms of Charcot- Marie-Tooth disease, axonal CMT2M and intermediate CMTDIB, Centronuclear myopathy ADCNM,
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