Abstract
Autosomal recessive Charcot-Marie-Tooth disease has been classified based on clinical, neurophysiological and neuropathological criteria, into three types: CMT4A, CMT4B and CMT4C. Seven demyelinating and one axonal autosomal recessive Charcot-Marie-Tooth disease loci have thus, so far been mapped. More recently, the genes for two of these loci were identified; Myotubularin -related protein-2 for CMT4B1 and N-myc downstream -regulated gene 1 for CMT4D. We performed linkage and haplotype analyses of seven axonal autosomal recessive Charcot-Marie-Tooth disease families at the above axonal and demyelinating autosomal recessive Charcot-Marie-Tooth disease loci. Data are presented and discussed.
Original language | English |
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Pages (from-to) | 35-38 |
Number of pages | 4 |
Journal | Acta Myologica |
Volume | 20 |
Issue number | MAY |
Publication status | Published - 2001 |
Keywords
- Axonal autosomal recessive Charcot-Marie-Tooth disease
- Linkage and haplotype analysis