Molecular genetic studies in autosomal recessive Charcot-Marie-Tooth disease

D. M. Georgiou, H. Jedrzejowska, B. Ryniewicz, I. Hausmanowa-Petrusewicz, E. Zamba, Th Kyriakides, K. Christodoulou, L. T. Middleton

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)35-38
Number of pages4
JournalActa Myologica
Volume20
Issue numberMAY
Publication statusPublished - 2001

Keywords

  • Axonal autosomal recessive Charcot-Marie-Tooth disease
  • Linkage and haplotype analysis

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    Georgiou, D. M., Jedrzejowska, H., Ryniewicz, B., Hausmanowa-Petrusewicz, I., Zamba, E., Kyriakides, T., Christodoulou, K., & Middleton, L. T. (2001). Molecular genetic studies in autosomal recessive Charcot-Marie-Tooth disease. Acta Myologica, 20(MAY), 35-38.