Homo sapiens
isolate
Z_1007
age
Unknown
biomaterial_provider
Stephan Zuchner, Dr. John T. Macdonald Foundation Department of Human Genetics and Hussmaninstitute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA
sex
male
tissue
Blood
disease
Charcot-Marie-Tooth
ethnicity
North American Caucasian
Study from which samples were obtained
Zuchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E.L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., et al. (2004). Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36, 449-451.
BioSampleModel
Human