Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation
β Scribed by Gulam Mustafa Saifi; Kinga Szigeti; Wojciech Wiszniewski; Michael E. Shy; Karen Krajewski; Irena Hausmanowa-Petrusewicz; Andrzej Kochanski; Suzanne Reeser; Pedro Mancias; Ian Butler; James R. Lupski
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 511 KB
- Volume
- 25
- Category
- Article
- ISSN
- 1059-7794
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β¦ Synopsis
Communicated by
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The myelin protein zero gene (MPZ) maps to chromosome lq22-23 and encodes the most abundant peripheral nerve myelin protein. The Po protein functions as a homophilic adhesion molecule in myelin compaction. Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charco
## Abstract Introduction: In this study we report a novel mutation in the gap junction protein beta 1 (__GJB1__) gene of a Chinese Xβlinked CharcotβMarieβTooth disease (CMTX1) family, which has specific electrophysiological characteristics. Methods: Twenty members in the family were studied by clin
The two most common subtypes of Charcot-Marie-Tooth (CMT) disease are CMT1A and CMTX1. To determine whether these different genetic entities display different morphological phenotypes we compared sural nerve biopsies of CMT1A patients due to PMP22 duplication with biopsies of CMTX1 patients with pro
## Abstract The generation of free radicals and the resulting oxidative modification of cell structures are omnipresent in mammalian cells. This includes the permanent oxidation of proteins leading to the disruption of the protein structure and an impaired functionality. In consequence, these oxidi
Charcot-Marie-Tooth (CMT) disease consists of genetically heterogeneous neuropathies. Molecular genetic procedures have shown that most patients with CMT type 1 (autosomal dominant, hypertrophic form) have 1.5 Mb CMTlA duplication containing peripheral myelin protein-22 (PMP-22) gene