Article
17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1.
European neurology - 1 Jan 1994
Mancardi G L, Uccelli A, Bellone E, Sghirlanzoni A, Mandich P, Pareyson D, Schenone A, Abbruzzese M, Ajmar F
Abstract excerpt
We investigated the presence of duplication in chromosome 17p11.2 in 4 individuals with sporadic Charcot-Marie-Tooth disease (CMT 1) and 1 isolated case where a definite differential diagnosis between CMT 1 and Déjérine-Sottas disease was not achieved. The 5 affected cases and their parents and r...
Topics
- Adolescent
- Adult
- Axons
- Charcot-Marie-Tooth Disease
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 17
- Diagnosis, Differential
- Female
- Haplotypes
- Hereditary Sensory and Motor Neuropathy
- Humans
- Male
- Microscopy, Electron
- Mutation
- Myelin Sheath
- Neurologic Examination