Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ)

Neurogenetics. 2000 Sep;3(1):49-50. doi: 10.1007/pl00022981.

Authors

A B Ekici, D Schweitzer, O Park, D Lorek, B Rautenstrauss, G Krüger, W Friedl, S Uhlhaas, K Bathke, D Heuss, C Kayser, H Grehl

PMID: 11085599
DOI: 10.1007/pl00022981

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / pathology
Charcot-Marie-Tooth Disease / physiopathology
Connexins / genetics*
Exons
Gap Junction beta-1 Protein
Gene Duplication
Hereditary Sensory and Motor Neuropathy / genetics*
Humans
Mutation*
Myelin P0 Protein / genetics*
Myelin Proteins / genetics*
Sural Nerve / pathology
Sural Nerve / physiopathology

Substances

Connexins
Myelin P0 Protein
Myelin Proteins
PMP22 protein, human