Results 1 -
3
of
3
for
"Charcot-Marie-Tooth" disease type 1E
- ... experienced by some people with a form of Charcot-Marie-Tooth disease called type 1E (CMT1E). CMT1E is associated with particular amino acid substitutions and deletions in the PMP22 gene. The most frequently reported mutation ... disease sometimes referred to as Dejerine-Sottas disease or ...
- ... 8. doi: 10.1097/01.gim.0000245578.94312.1e. Citation on PubMed Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr. 2002 Oct;34(5):363- ...
- ... This Health Condition MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition Several normal variations ( ...