Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A

Isabella Moroni, Michela Morbin, Micaela Milani, Claudia Ciano, Marianna Bugiani, Emanuela Pagliano, Tiziana Cavallaro, Davide Pareyson, Franco Taroni

Research output: Contribution to journalArticlepeer-review

Abstract

We report a detailed study of eight patients from four Italian families presenting with autosomal recessive axonal Charcot-Marie-Tooth disease (AR-CMT2), characterized by early-onset and progressive severe weakness of all limbs. Vocal cord paresis was present in two cases. Sural nerve biopsy performed in three patients showed a severe neuropathy characterized by a predominant axonal involvement. Five novel mutations (p.Gln99stop, p.Gln122Lys, p.Arg125stop, p.Val219Asp, p.Asn297Lys) and one previously reported mutation (p.Leu239Phe) were identified in GDAP1 gene. GDAP1 mutations should be considered both in recessive and sporadic cases of early-onset axonal CMT.

Original languageEnglish
Pages (from-to)476-480
Number of pages5
JournalNeuromuscular Disorders
Volume19
Issue number7
DOIs
Publication statusPublished - Jul 2009

Keywords

  • Autosomal recessive
  • Axonal neuropathy
  • CMT2
  • GDAP1 gene
  • Vocal cord palsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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