A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

Marco Luigetti*, Anna Modoni, Rosaria Renna, Gabriella Silvestri, Enzo Ricci, Nicola Montano, Giordano Tasca, Manuela Papacci, Mauro Monforte, Amelia Conte, Mg Pomponi, Mario Sabatelli

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolopeer review

11 Citazioni (Scopus)

Abstract

Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). The most common demyelinating form is CMT1A, due to a duplication in the gene encoding the peripheral myelin protein 22 (PMP22). Less frequently, mutations in the myelin protein zero gene (MPZ/P0) account for demyelinating CMT1B. Herein, we report a patient presenting with an isolated hyperCKemia in whom electrophysiological and pathological findings revealed a demyelinating and axonal neuropathy. Sequencing of the MPZ gene revealed a 306delA at codon 102 in the proband and in two relatives. This mutation has been already described in association with paucisymptomatic CMT without hyperCKemia.
Lingua originaleInglese
pagine (da-a)794-797
Numero di pagine4
RivistaClinical Neurology and Neurosurgery
Volume112
Numero di pubblicazione9
DOI
Stato di pubblicazionePubblicato - 2010

All Science Journal Classification (ASJC) codes

  • Chirurgia
  • Neurologia (clinica)

Keywords

  • Action Potentials
  • Adult
  • Axons
  • Biopsy
  • Charcot-Marie-Tooth Disease
  • Codon
  • Creatine Kinase
  • Diagnosis
  • Electromyography
  • Family
  • Genetic Testing
  • Humans
  • Male
  • Motor Neurons
  • Mutation
  • Myelin P0 Protein
  • Neural Conduction
  • Neurologic Examination
  • Peripheral Nerves
  • Sensory Receptor Cells

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