A novel NF-L mutation pro22ser is associated with CMT2 in a large Slovenian family

Domna Maria Georgiou, Janez Zidar, Marko Korošec, Lefkos T. Middleton, Theodoros Kyriakides, Kyproula Christodoulou

Research output: Contribution to journalArticlepeer-review

Abstract

Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is currently subdivided into seven types based on genetic localization. These are CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C (unknown), CMT2D (7p14), CMT2E (8p21), HMNSP (3q13.1), and CMT2F (7q11-q21). Two loci have thus far been identified for autosomal recessive CMT2; ARCMT2A (1q21.1-q21.3) and ARC-MT2B (19q13.3). Mutations in four genes (connexin 32, myelin protein zero, neurofilament-light, and kinesin) have been associated with the CMT2 phenotype. We identified a novel neurofilament-light missense mutation (C64T) that causes the disease in a large Slovenian CMT2 family. This novel mutation shows complete co-segregation with the dominantly inherited CMT2 phenotype in our family.

Original languageEnglish
Pages (from-to)93-96
Number of pages4
JournalNeurogenetics
Volume4
Issue number2
DOIs
Publication statusPublished - Oct 2002

Keywords

  • Charcot-Marie-Tooth
  • CMT2
  • Novel neurofilament-light mutation

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