Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy. [electronic resource]
- Journal of neurogenetics Dec 2011
- 182-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1563-5260
10.3109/01677063.2011.627484 doi
Adolescent Adult Charcot-Marie-Tooth Disease--diagnosis Child Child, Preschool Czechoslovakia Dynamin II--deficiency Female Genetic Predisposition to Disease--ethnology Humans Infant Infant, Newborn Male Middle Aged Mutation, Missense--genetics Pedigree Phenotype Young Adult