Article
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
Brain : a journal of neurology - 1 Feb 2011
Taioli Federica, Cabrini Ilaria, Cavallaro Tiziana, Acler Michele, Fabrizi Gian Maria
Abstract excerpt
The peripheral myelin protein 22 gene (PMP22) encodes an intrinsic membrane protein of compact myelin. Duplication or deletion of PMP22 causes the most common autosomal dominant neuropathies, Charcot-Marie-Tooth disease type 1A or hereditary neuropathy with liability to pressure palsies. Charcot-Marie-Tooth disease type 1A is a hypertrophic de-remyelinating neuropathy manifesting with peroneal muscular atrophy...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Arthrogryposis
- Charcot-Marie-Tooth Disease
- Child
- Female
- Hereditary Central Nervous System Demyelinating Diseases
- Hereditary Sensory and Motor Neuropathy
- Humans
- Male
- Middle Aged
- Mutation
- Myelin Proteins
- Phenotype
- Sural Nerve
- Transcription, Genetic