Article
[Giant axonal neuropathy. Presentation of 2 familial cases].
Neurologia (Barcelona, Spain) - 1 Jan 2000
Maraví Petri E, García-Bragado F, Martín Ruiz E, Guarch R, Ruiz de Azúa Y, Yoldi M E
Abstract excerpt
A review of 20 cases of giant axonal neuropathy (4 of them familial) described in the literature, and two new cases in brothers whose parents had no consanguinity is reported. A recessive autosomic pattern of inheritance is suggested. Curly hair, a typical phenotypic feature, was not initially pr...
Topics
- Axons
- Biopsy
- Child
- Child, Preschool
- Demyelinating Diseases
- Family
- Female
- Hair Diseases
- Hereditary Sensory and Motor Neuropathy
- Humans
- Male
- Microscopy, Electron
- Phenotype